Cav2.1
737 literature references associated to Cav2.1
1
Berecki G
et al.
Mechanism of direct Cav2.2 channel block by the κ-opioid receptor agonist U50488H.
Neuropharmacology,
2016
May
28
, 109 (49-58).
2
Nanou E
et al.
Calcium sensor regulation of the CaV2.1 Ca2+ channel contributes to short-term synaptic plasticity in hippocampal neurons.
Proc. Natl. Acad. Sci. U.S.A.,
2016
Jan
26
, 113 (1062-7).
3
Nanou E
et al.
Altered short-term synaptic plasticity and reduced muscle strength in mice with impaired regulation of presynaptic CaV2.1 Ca2+ channels.
Proc. Natl. Acad. Sci. U.S.A.,
2016
Jan
26
, 113 (1068-73).
4
Bomben VC
et al.
Isolated P/Q Calcium Channel Deletion in Layer VI Corticothalamic Neurons Generates Absence Epilepsy.
J. Neurosci.,
2016
Jan
13
, 36 (405-18).
5
Tomlinson SE
et al.
In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.
Brain,
2016
Feb
, 139 (380-91).
6
Byers HM
et al.
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.
Pediatr. Neurol.,
2016
Apr
1
, ().
7
Kim TY
et al.
Absence-like seizures and their pharmacological profile in tottering-6j mice.
Biochem. Biophys. Res. Commun.,
2015 Jul 17-24
, 463 (148-53).
8
Chang CY
et al.
Apigenin, a natural flavonoid, inhibits glutamate release in the rat hippocampus.
Eur. J. Pharmacol.,
2015
Sep
5
, 762 (72-81).
9
Coll M
et al.
Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
Int. J. Legal Med.,
2015
Sep
30
, ().
10
Kaja S
et al.
Differential cerebellar GABAA receptor expression in mice with mutations in CaV2.1 (P/Q-type) calcium channels.
Neuroscience,
2015
Sep
24
, 304 (198-208).
11
Yin N
et al.
Silver nanoparticle exposure induces rat motor dysfunction through decrease in expression of calcium channel protein in cerebellum.
Toxicol. Lett.,
2015
Sep
2
, 237 (112-20).
12
Kumar D
et al.
Cacna1c (Cav1.2) Modulates Electroencephalographic Rhythm and Rapid Eye Movement Sleep Recovery.
Sleep,
2015
Sep
, 38 (1371-80).
13
López Soto EJ
et al.
Constitutive and ghrelin-dependent GHSR1a activation impairs CaV2.1 and CaV2.2 currents in hypothalamic neurons.
J. Gen. Physiol.,
2015
Sep
, 146 (205-19).
14
Takada Y
et al.
Rab3 interacting molecule 3 mutations associated with autism alter regulation of voltage-dependent Ca²⁺ channels.
Cell Calcium,
2015
Sep
, 58 (296-306).
15
Rousset M
et al.
Regulation of neuronal high-voltage activated Ca(V)2 Ca(2+) channels by the small GTPase RhoA.
Neuropharmacology,
2015
Oct
, 97 (201-9).
16
Jacobi H
et al.
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study.
Lancet Neurol,
2015
Nov
, 14 (1101-8).
17
Damaj L
et al.
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.
Eur. J. Hum. Genet.,
2015
Nov
, 23 (1505-12).
18
Murakami M
et al.
Modified autonomic regulation in mice mutated in the β4 subunit of the lh/lh calcium channel.
Biochem. Biophys. Res. Commun.,
2015
May
29
, 461 (200-5).
19
Hansen PB
New Role of P/Q-type Voltage-gated Calcium Channels: From Transmitter Release to Contraction of Renal Vasculature.
J. Cardiovasc. Pharmacol.,
2015
May
, 65 (406-11).
20
Chang Y
et al.
Myricetin inhibits the release of glutamate in rat cerebrocortical nerve terminals.
J Med Food,
2015
May
, 18 (516-23).
21
Blumkin L
et al.
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.
Eur. J. Paediatr. Neurol.,
2015
May
, 19 (292-7).
22
Tian X
et al.
A voltage-gated calcium channel regulates lysosomal fusion with endosomes and autophagosomes and is required for neuronal homeostasis.
PLoS Biol.,
2015
Mar
, 13 (e1002103).
23
Cens T
et al.
Molecular characterization and functional expression of the Apis mellifera voltage-dependent Ca2+ channels.
Insect Biochem. Mol. Biol.,
2015
Mar
, 58 (12-27).
24
Bechi G
et al.
Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.
Neurobiol. Dis.,
2015
Mar
, 75 (100-14).
25
Zhou FJ
et al.
Two New Classes of T-Type Calcium Channel Inhibitors with New Chemical Scaffolds from Ganoderma cochlear.
Org. Lett.,
2015
Jun
19
, 17 (3082-5).
26
Mark MD
et al.
Spinocerebellar ataxia type 6 protein aggregates cause deficits in motor learning and cerebellar plasticity.
J. Neurosci.,
2015
Jun
10
, 35 (8882-95).
27
Hino-Fukuyo N
et al.
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hum. Genet.,
2015
Jun
, 134 (649-58).
28
Kros L
et al.
Cerebellar output controls generalized spike-and-wave discharge occurrence.
Ann. Neurol.,
2015
Jun
, 77 (1027-49).
29
Carreira RJ
et al.
Large-scale mass spectrometry imaging investigation of consequences of cortical spreading depression in a transgenic mouse model of migraine.
J. Am. Soc. Mass Spectrom.,
2015
Jun
, 26 (853-61).
30
Langlhofer G
et al.
Length of the TM3-4 loop of the glycine receptor modulates receptor desensitization.
Neurosci. Lett.,
2015
Jul
23
, 600 (176-81).
31
Nakamura Y
et al.
Nanoscale distribution of presynaptic Ca(2+) channels and its impact on vesicular release during development.
Neuron,
2015
Jan
7
, 85 (145-58).
32
33
Rahman MS
et al.
Genetic testing for spinocerebellar ataxias in patients diagnosed as Parkinson's disease in Bangladesh.
Mymensingh Med J,
2015
Jan
, 24 (44-51).
34
Inchauspe CG
et al.
Familial hemiplegic migraine type-1 mutated cav2.1 calcium channels alter inhibitory and excitatory synaptic transmission in the lateral superior olive of mice.
Hear. Res.,
2015
Jan
, 319 (56-68).
35
Marinelli S
et al.
Effects of age-related loss of P/Q-type calcium channels in a mice model of peripheral nerve injury.
Neurobiol. Aging,
2015
Jan
, 36 (352-64).
36
Kinder S
et al.
Novel frameshift mutation in the CACNA1A gene causing a mixed phenotype of episodic ataxia and familiar hemiplegic migraine.
Eur. J. Paediatr. Neurol.,
2015
Jan
, 19 (72-4).
37
Baur D
et al.
Developmental tightening of cerebellar cortical synaptic influx-release coupling.
J. Neurosci.,
2015
Feb
4
, 35 (1858-71).
38
Naranjo D
et al.
Zebrafish CaV2.1 calcium channels are tailored for fast synchronous neuromuscular transmission.
Biophys. J.,
2015
Feb
3
, 108 (578-84).
39
Dileköz E
et al.
Migraine mutations impair hippocampal learning despite enhanced long-term potentiation.
J. Neurosci.,
2015
Feb
25
, 35 (3397-402).
40
Spillane J
et al.
Lambert-Eaton syndrome IgG inhibits transmitter release via P/Q Ca2+ channels.
Neurology,
2015
Feb
10
, 84 (575-9).
41
Molina-Campos E
et al.
Age-dependent contribution of P/Q- and R-type Ca2+ channels to neuromuscular transmission in lethargic mice.
J. Pharmacol. Exp. Ther.,
2015
Feb
, 352 (395-404).
42
Scamps F
et al.
Nerve injury induces a Gem-GTPase-dependent downregulation of P/Q-type Ca2+ channels contributing to neurite plasticity in dorsal root ganglion neurons.
Pflugers Arch.,
2015
Feb
, 467 (351-66).
43
Zhou MH
et al.
Molecular Basis of Regulating High Voltage-Activated Calcium Channels by S-Nitrosylation.
J. Biol. Chem.,
2015
Dec
18
, 290 (30616-23).
44
Tsou WL
et al.
DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.
Hum. Mol. Genet.,
2015
Aug
1
, 24 (4385-96).
45
Lv N
et al.
Association study between polymorphisms in the CACNA1A, CACNA1C, and CACNA1H genes and drug-resistant epilepsy in the Chinese Han population.
Seizure,
2015
Aug
, 30 (64-9).
46
Eikermann-Haerter K
et al.
Abnormal synaptic Ca(2+) homeostasis and morphology in cortical neurons of familial hemiplegic migraine type 1 mutant mice.
Ann. Neurol.,
2015
Aug
, 78 (193-210).
47
Choi JH
et al.
Exercise-induced downbeat nystagmus in a Korean family with a nonsense mutation in CACNA1A.
Neurol. Sci.,
2015
Aug
, 36 (1393-6).
48
Cramer SW
et al.
Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.
J. Neurosci.,
2015
Apr
8
, 35 (5664-79).
49
Charlesworth G
et al.
Mutations in HPCA cause autosomal-recessive primary isolated dystonia.
Am. J. Hum. Genet.,
2015
Apr
2
, 96 (657-65).
50
Aung T
et al.
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
Nat. Genet.,
2015
Apr
, 47 (387-92).
51
Nakao A
et al.
Compromised maturation of GABAergic inhibition underlies abnormal network activity in the hippocampus of epileptic Ca2+ channel mutant mice, tottering.
Pflugers Arch.,
2015
Apr
, 467 (737-52).
52
Subramanian M
et al.
Idiopathic generalized epilepsy and hypokalemic periodic paralysis in a family of South Indian descent.
Case Rep Neurol Med,
2015
, 2015 (906049).
53
Serikawa T
et al.
Advances on genetic rat models of epilepsy.
Exp. Anim.,
2015
, 64 (1-7).
54
Bahamonde MI
et al.
A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx.
PLoS ONE,
2015
, 10 (e0146035).
55
Wang CY
et al.
Meta-Analysis of Public Microarray Datasets Reveals Voltage-Gated Calcium Gene Signatures in Clinical Cancer Patients.
PLoS ONE,
2015
, 10 (e0125766).
56
Lian LY
et al.
Demonstration of binding of neuronal calcium sensor-1 to the cav2.1 p/q-type calcium channel.
Biochemistry,
2014
Sep
30
, 53 (6052-62).
57
Fernández-Morales JC
et al.
Hypoxia-elicited catecholamine release is controlled by L-type as well as N/PQ types of calcium channels in rat embryo chromaffin cells.
Am. J. Physiol., Cell Physiol.,
2014
Sep
1
, 307 (C455-65).
58
Vecchia D
et al.
Mechanism underlying unaltered cortical inhibitory synaptic transmission in contrast with enhanced excitatory transmission in CaV2.1 knockin migraine mice.
Neurobiol. Dis.,
2014
Sep
, 69 (225-34).
59
Kim TY
et al.
Age-dependent kainate sensitivity in heterozygous rolling Nagoya Cav2.1 channel mutant mice.
Pharmacol. Biochem. Behav.,
2014
Sep
, 124 (250-9).
60
van Gaalen J
et al.
Language impairment in cerebellar ataxia.
Mov. Disord.,
2014
Sep
, 29 (1307-12).
61
Ford KJ
et al.
Archaerhodopsin voltage imaging: synaptic calcium and BK channels stabilize action potential repolarization at the Drosophila neuromuscular junction.
J. Neurosci.,
2014
Oct
29
, 34 (14517-25).
62
Lin TY
et al.
Cyclooxygenase 2 inhibitor celecoxib inhibits glutamate release by attenuating the PGE2/EP2 pathway in rat cerebral cortex endings.
J. Pharmacol. Exp. Ther.,
2014
Oct
, 351 (134-45).
63
Barros J
et al.
Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley.
Cephalalgia,
2014
Oct
, 34 (1015-20).
64
García-Baró-Huarte M
et al.
Phenotypic variability in a four generation family with a p.Thr666Met CACNA1A gene mutation.
Pediatr. Neurol.,
2014
Oct
, 51 (557-9).
65
Stahl JS
et al.
Flocculus Purkinje cell signals in mouse Cacna1a calcium channel mutants of escalating severity: an investigation of the role of firing irregularity in ataxia.
J. Neurophysiol.,
2014
Nov
15
, 112 (2647-63).
66
Carattino MD
et al.
Prostasin interacts with the epithelial Na+ channel and facilitates cleavage of the γ-subunit by a second protease.
Am. J. Physiol. Renal Physiol.,
2014
Nov
1
, 307 (F1080-7).
67
Rose SJ
et al.
The first knockin mouse model of episodic ataxia type 2.
Exp. Neurol.,
2014
Nov
, 261 (553-62).
68
Yan J
et al.
Modulation of CaV2.1 channels by neuronal calcium sensor-1 induces short-term synaptic facilitation.
Mol. Cell. Neurosci.,
2014
Nov
, 63 (124-31).
69
Di Guilmi MN
et al.
Synaptic gain-of-function effects of mutant Cav2.1 channels in a mouse model of familial hemiplegic migraine are due to increased basal [Ca2+]i.
J. Neurosci.,
2014
May
21
, 34 (7047-58).
70
Kunz HH
et al.
Plastidial transporters KEA1, -2, and -3 are essential for chloroplast osmoregulation, integrity, and pH regulation in Arabidopsis.
Proc. Natl. Acad. Sci. U.S.A.,
2014
May
20
, 111 (7480-5).
71
Haerteis S
et al.
Proteolytic Activation of the Human Epithelial Sodium Channel by Trypsin IV and Trypsin I Involves Distinct Cleavage Sites.
J. Biol. Chem.,
2014
May
19
, ().
72
Perissinotti PP
et al.
Down-regulation of endogenous KLHL1 decreases voltage-gated calcium current density.
Cell Calcium,
2014
May
, 55 (269-80).
73
Nachbauer W
et al.
Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.
J. Neurol.,
2014
May
, 261 (983-91).
74
Vila-Pueyo M
et al.
A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.
Eur. J. Paediatr. Neurol.,
2014
May
, 18 (430-3).
75
Barros J
et al.
The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in Portugal.
Headache,
2014
May
, 54 (911-5).
76
Alvarez-Laviada A
et al.
The inhibition of functional expression of calcium channels by prion protein demonstrates competition with α2δ for GPI-anchoring pathways.
Biochem. J.,
2014
Mar
1
, 458 (365-74).
77
Kuryshev YA
et al.
Evaluating state dependence and subtype selectivity of calcium channel modulators in automated electrophysiology assays.
Assay Drug Dev Technol,
2014
Mar
, 12 (110-9).
78
de Vries B
et al.
RNA expression profiling in brains of familial hemiplegic migraine type 1 knock-in mice.
Cephalalgia,
2014
Mar
, 34 (174-82).
79
Ricoy UM
et al.
Distinct roles for Cav2.1-2.3 in activity-dependent synaptic dynamics.
J. Neurophysiol.,
2014
Jun
15
, 111 (2404-13).
80
Duan JH
et al.
N-type calcium current, Cav2.2, is enhanced in small-diameter sensory neurons isolated from Nf1+/- mice.
Neuroscience,
2014
Jun
13
, 270 (192-202).
81
Wang CC
et al.
Dimebon, an antihistamine drug, inhibits glutamate release in rat cerebrocortical nerve terminals.
Eur. J. Pharmacol.,
2014
Jul
5
, 734 (67-76).
82
García Segarra N
et al.
Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.
J. Neurol. Sci.,
2014
Jul
15
, 342 (69-78).
83
Inagaki A
et al.
Pharmacological Correction of Gating Defects in the Voltage-Gated Cav2.1 Ca(2+) Channel due to a Familial Hemiplegic Migraine Mutation.
Neuron,
2014
Jan
8
, 81 (91-102).
84
Kline CF
et al.
Ankyrin-B regulates Cav2.1 and Cav2.2 Expression and Targeting.
J. Biol. Chem.,
2014
Jan
6
, ().
85
Satake S
et al.
Cav2.1 channels control multivesicular release by relying on their distance from exocytotic Ca2+ sensors at rat cerebellar granule cells.
J. Neurosci.,
2014
Jan
22
, 34 (1462-74).
86
Etemad S
et al.
Differential neuronal targeting of a new and two known calcium channel β4 subunit splice variants correlates with their regulation of gene expression.
J. Neurosci.,
2014
Jan
22
, 34 (1446-61).
87
Bashir A
et al.
Association of single nucleotide polymorphisms of CACNA1A gene in migraine.
Indian J Hum Genet,
2014
Jan
, 20 (59-63).
88
Niimi K
et al.
Blockade of Cav2.1-mediated NMDA receptor signaling disrupts conditioned fear extinction.
Behav. Brain Res.,
2014
Feb
1
, 259 (45-9).
89
Rochester L
et al.
Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6.
Mov. Disord.,
2014
Feb
, 29 (252-5).
90
Cox DH
Modeling a Ca(2+) channel/BKCa channel complex at the single-complex level.
Biophys. J.,
2014
Dec
16
, 107 (2797-814).
91
Schubert M
et al.
Paraneoplastic CDR2 and CDR2L antibodies affect Purkinje cell calcium homeostasis.
Acta Neuropathol.,
2014
Dec
, 128 (835-52).
92
Wang T
et al.
Endostatin is a trans-synaptic signal for homeostatic synaptic plasticity.
Neuron,
2014
Aug
6
, 83 (616-29).
93
Salvi J
et al.
RNAi silencing of P/Q-type calcium channels in Purkinje neurons of adult mouse leads to episodic ataxia type 2.
Neurobiol. Dis.,
2014
Aug
, 68 (47-56).
94
Yoshimoto T
et al.
Rolling Nagoya mouse strain (PROD-rol/rol) with classic piebald mutation.
J. Vet. Med. Sci.,
2014
Aug
, 76 (1093-8).
95
Weller CM
et al.
Two novel SCN1A mutations identified in families with familial hemiplegic migraine.
Cephalalgia,
2014
Apr
4
, ().
96
Hullugundi SK
et al.
A hyperexcitability phenotype in mouse trigeminal sensory neurons expressing the R192Q Cacna1a missense mutation of familial hemiplegic migraine type-1.
Neuroscience,
2014
Apr
25
, 266 (244-54).
97
Davydova D
et al.
Bassoon specifically controls presynaptic P/Q-type Ca(2+) channels via RIM-binding protein.
Neuron,
2014
Apr
2
, 82 (181-94).
98
Bürk K
et al.
A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression.
Eur J Med Genet,
2014
Apr
, 57 (207-11).
99
Berecki G
et al.
Differential Cav2.1 and Cav2.3 channel inhibition by baclofen and α-conotoxin Vc1.1 via GABAB receptor activation.
J. Gen. Physiol.,
2014
Apr
, 143 (465-79).
100
Park J
et al.
Differential trigeminovascular nociceptive responses in the thalamus in the familial hemiplegic migraine 1 knock-in mouse: a Fos protein study.
Neurobiol. Dis.,
2014
Apr
, 64 (1-7).
101
Topakian R
et al.
Rare clinical findings in a patient with sporadic hemiplegic migraine: FDG-PET provides diminished brain metabolism at 10-year follow-up.
Cephalalgia,
2014
Apr
, 34 (392-6).
102
103
Tashiro Y
et al.
Repeated encephalopathy and hemicerebral atrophy in a patient with familial hemiplegic migraine type 1.
Intern. Med.,
2014
, 53 (2245-50).
104
Gambardella A
et al.
The role of calcium channel mutations in human epilepsy.
Prog. Brain Res.,
2014
, 213 (87-96).
105
Lin TY
et al.
Acacetin inhibits glutamate release and prevents kainic acid-induced neurotoxicity in rats.
PLoS ONE,
2014
, 9 (e88644).
106
Daschil N
et al.
Short- and long-term treatment of mouse cortical primary astrocytes with β-amyloid differentially regulates the mRNA expression of L-type calcium channels.
Pharmacology,
2014
, 93 (24-31).
107
et al.
De novo mutations in epileptic encephalopathies.
Nature,
2013
Sep
12
, 501 (217-21).
108
Choi KD
et al.
Possible anticipation associated with a novel splice site mutation in episodic ataxia type 2.
Neurol. Sci.,
2013
Sep
, 34 (1629-32).
109
Cestèle S
et al.
Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.
Proc. Natl. Acad. Sci. U.S.A.,
2013
Oct
22
, 110 (17546-51).
110
Ramachandra R
et al.
Identification of CaV channel types expressed in muscle afferent neurons.
J. Neurophysiol.,
2013
Oct
, 110 (1535-43).
111
Montalbano A
et al.
Blockade of BDNF signaling turns chemically-induced long-term potentiation into long-term depression.
Hippocampus,
2013
Oct
, 23 (879-89).
112
Condliffe SB
et al.
The E1015K variant in the synprint region of the CaV2.1 channel alters channel function and is associated with different migraine phenotypes.
J. Biol. Chem.,
2013
Nov
22
, 288 (33873-83).
113
Campiglio M
et al.
Stable incorporation versus dynamic exchange of β subunits in a native Ca2+ channel complex.
J. Cell. Sci.,
2013
May
1
, 126 (2092-101).
115
Cestèle S
et al.
Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine.
Epilepsia,
2013
May
, 54 (927-35).
116
Nimmakayalu M
et al.
Apparent germline mosaicism for a novel 19p13.13 deletion disrupting NFIX and CACNA1A.
Am. J. Med. Genet. A,
2013
May
, 161A (1105-9).
117
Maejima T
et al.
Postnatal loss of P/Q-type channels confined to rhombic-lip-derived neurons alters synaptic transmission at the parallel fiber to purkinje cell synapse and replicates genomic Cacna1a mutation phenotype of ataxia and seizures in mice.
J. Neurosci.,
2013
Mar
20
, 33 (5162-74).
118
Franceschini A
et al.
Effects of LPS on P2X3 receptors of trigeminal sensory neurons and macrophages from mice expressing the R192Q Cacna1a gene mutation of familial hemiplegic migraine-1.
Purinergic Signal.,
2013
Mar
, 9 (7-13).
119
Takai J
et al.
Laminar shear stress upregulates endothelial Ca2+-activated K+ channels KCa2.3 and KCa3.1 via a Ca2+/calmodulin-dependent protein kinase kinase/Akt/p300 cascade.
Am. J. Physiol. Heart Circ. Physiol.,
2013
Jun
21
, ().
120
Lohmann K
et al.
Genetics of dystonia: what's known? What's new? What's next?
Mov. Disord.,
2013
Jun
15
, 28 (899-905).
121
Molloy A
et al.
A novel CACNA1A mutation associated with adult-onset, paroxysmal head tremor.
Mov. Disord.,
2013
Jun
, 28 (842-3).
122
Pisano T
et al.
Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.
Cephalalgia,
2013
Jul
9
, ().
123
Du X
et al.
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6.
Cell,
2013
Jul
3
, 154 (118-33).
124
Pietrobon D
Calcium channels and migraine.
Biochim. Biophys. Acta,
2013
Jul
, 1828 (1655-65).
125
Indriati DW
et al.
Quantitative localization of Cav2.1 (P/Q-type) voltage-dependent calcium channels in Purkinje cells: somatodendritic gradient and distinct somatic coclustering with calcium-activated potassium channels.
J. Neurosci.,
2013
Feb
20
, 33 (3668-78).
126
Koch H
et al.
Stable respiratory activity requires both P/Q-type and N-type voltage-gated calcium channels.
J. Neurosci.,
2013
Feb
20
, 33 (3633-45).
127
Magupalli VG
et al.
Ca2+-independent activation of Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain of CaV2.1 calcium channels.
J. Biol. Chem.,
2013
Feb
15
, 288 (4637-48).
128
Barros J
et al.
Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.
JAMA Neurol,
2013
Feb
, 70 (235-40).
129
Wulff H
et al.
Endothelial small-conductance and intermediate-conductance KCa channels: an update on their pharmacology and usefulness as cardiovascular targets.
J. Cardiovasc. Pharmacol.,
2013
Feb
, 61 (102-12).
130
Ohmori I
et al.
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Neurobiol. Dis.,
2013
Feb
, 50 (209-17).
131
Girach F
et al.
RIM1α SUMOylation is required for fast synaptic vesicle exocytosis.
Cell Rep,
2013
Dec
12
, 5 (1294-301).
132
Shelley C
et al.
Phosphorylation of a constitutive serine inhibits BK channel variants containing the alternate exon "SRKR".
J. Gen. Physiol.,
2013
Dec
, 142 (585-98).
133
Kipfer S
et al.
Novel CACNA1A mutation(s) associated with slow saccade velocities.
J. Neurol.,
2013
Dec
, 260 (3010-4).
134
Chanda ML
et al.
Behavioral evidence for photophobia and stress-related ipsilateral head pain in transgenic Cacna1a mutant mice.
Pain,
2013
Aug
, 154 (1254-62).
135
Rossignol E
et al.
CaV 2.1 ablation in cortical interneurons selectively impairs fast-spiking basket cells and causes generalized seizures.
Ann. Neurol.,
2013
Aug
, 74 (209-22).
136
Tian X
et al.
Analysis of ischemic neuronal injury in Cav2.1 channel α1 subunit mutant mice.
Biochem. Biophys. Res. Commun.,
2013
Apr
26
, 434 (60-4).
137
Galliano E
et al.
Silencing the majority of cerebellar granule cells uncovers their essential role in motor learning and consolidation.
Cell Rep,
2013
Apr
25
, 3 (1239-51).
138
Garza-López E
et al.
The familial hemiplegic migraine type 1 mutation K1336E affects direct G protein-mediated regulation of neuronal P/Q-type Ca2+ channels.
Cephalalgia,
2013
Apr
, 33 (398-407).
139
Franceschini A
et al.
TNFα levels and macrophages expression reflect an inflammatory potential of trigeminal ganglia in a mouse model of familial hemiplegic migraine.
PLoS ONE,
2013
, 8 (e52394).
140
Takahashi M
et al.
Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.
PLoS ONE,
2013
, 8 (e50121).
141
Hu Y
et al.
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
PLoS ONE,
2013
, 8 (e56362).
142
Eikermann-Haerter K
et al.
Spreading depression and the clinical correlates of migraine.
Rev Neurosci,
2013
, 24 (353-63).
143
Hullugundi SK
et al.
The mechanism of functional up-regulation of P2X3 receptors of trigeminal sensory neurons in a genetic mouse model of familial hemiplegic migraine type 1 (FHM-1).
PLoS ONE,
2013
, 8 (e60677).
144
Benton DC
et al.
The relationship between functional inhibition and binding for K(Ca)2 channel blockers.
PLoS ONE,
2013
, 8 (e73328).
145
Wagner-Britz L
et al.
Protein kinase Cα and P-type Ca channel CaV2.1 in red blood cell calcium signalling.
Cell. Physiol. Biochem.,
2013
, 31 (883-91).
146
Mallmann RT
et al.
Tetraspanin-13 modulates voltage-gated CaV2.2 Ca2+ channels.
Sci Rep,
2013
, 3 (1777).
147
Gnanasekaran A
et al.
Mutated CaV2.1 channels dysregulate CASK/P2X3 signaling in mouse trigeminal sensory neurons of R192Q Cacna1a knock-in mice.
Mol Pain,
2013
, 9 (62).
148
Brennan SC
et al.
Fetal calcium regulates branching morphogenesis in the developing human and mouse lung: involvement of voltage-gated calcium channels.
PLoS ONE,
2013
, 8 (e80294).
149
Mallmann RT
et al.
Ablation of Ca(V)2.1 voltage-gated Ca²⁺ channels in mouse forebrain generates multiple cognitive impairments.
PLoS ONE,
2013
, 8 (e78598).
150
Gandini MA
Channeling headache: novel findings in the study of Ca(2+)-channels and FHM-1.
Channels (Austin),
2012 Nov-Dec
, 6 (414-5).
151
Domitrz I
et al.
A single-fibre electromyography study of neuromuscular transmission in patients with cluster headache.
Neurol. Neurochir. Pol.,
2012 Mar-Apr
, 46 (140-4).
152
Choi KH
et al.
Familial hemiplegic migraine with prolonged coma and cerebellar atrophy: CACNA1A T666M mutation in a Korean family.
J. Korean Med. Sci.,
2012
Sep
, 27 (1124-7).
153
Asghar SJ
et al.
Variable manifestations of familial hemiplegic migraine associated with reversible cerebral edema in children.
Pediatr. Neurol.,
2012
Sep
, 47 (201-4).
154
Ohmura K
et al.
Sporadic hemiplegic migraine presenting as acute encephalopathy.
Brain Dev.,
2012
Sep
, 34 (691-5).
155
Ovsepian SV
et al.
Enhanced synaptic inhibition disrupts the efferent code of cerebellar Purkinje neurons in leaner Cav2.1 Ca 2+ channel mutant mice.
Cerebellum,
2012
Sep
, 11 (666-80).
156
Aranda-Sicilia MN
et al.
Arabidopsis KEA2, a homolog of bacterial KefC, encodes a K(+)/H(+) antiporter with a chloroplast transit peptide.
Biochim. Biophys. Acta,
2012
Sep
, 1818 (2362-71).
157
Gao Z
et al.
Cerebellar ataxia by enhanced Ca(V)2.1 currents is alleviated by Ca2+-dependent K+-channel activators in Cacna1a(S218L) mutant mice.
J. Neurosci.,
2012
Oct
31
, 32 (15533-46).
158
Fujioka S
et al.
A novel de novo pathogenic mutation in the CACNA1A gene.
Mov. Disord.,
2012
Oct
, 27 (1578-9).
159
Lafrenière RG
et al.
Identification of novel genes involved in migraine.
Headache,
2012
Oct
, 52 Suppl 2 (107-10).
160
Haerteis S
et al.
Plasmin and chymotrypsin have distinct preferences for channel activating cleavage sites in the γ subunit of the human epithelial sodium channel.
J. Gen. Physiol.,
2012
Oct
, 140 (375-89).
161
Pringos E
et al.
Synthesis and characterization of a cyclooctapeptide analogue of ω-agatoxin IVB enhancing the activity of Cav2.1 calcium channels activity in cultured hippocampal neurons.
Neurochem. Int.,
2012
Oct
, 61 (632-9).
162
Magis D
et al.
A novel CACNA1A mutation results in episodic ataxia with migrainous features without headache.
Cephalalgia,
2012
Nov
, 32 (1147-9).
164
Ding X
et al.
Oligopeptides functionalized surface plasmon resonance biosensors for detecting thiacloprid and imidacloprid.
Biosens Bioelectron,
2012
May
15
, 35 (271-6).
165
Tao J
et al.
Effects of familial hemiplegic migraine type 1 mutation T666M on voltage-gated calcium channel activities in trigeminal ganglion neurons.
J. Neurophysiol.,
2012
Mar
, 107 (1666-80).
166
Todorov B
et al.
Purkinje cell-specific ablation of Cav2.1 channels is sufficient to cause cerebellar ataxia in mice.
Cerebellum,
2012
Mar
, 11 (246-58).
167
Tatalovic M
et al.
Expression of the P/Q (Cav2.1) calcium channel in nodose sensory neurons and arterial baroreceptors.
Neurosci. Lett.,
2012
Jun
27
, 520 (38-42).
168
Müller M
et al.
Transsynaptic control of presynaptic Ca²⁺ influx achieves homeostatic potentiation of neurotransmitter release.
Curr. Biol.,
2012
Jun
19
, 22 (1102-8).
169
Holderith N
et al.
Release probability of hippocampal glutamatergic terminals scales with the size of the active zone.
Nat. Neurosci.,
2012
Jul
, 15 (988-97).
170
Di Cristofori A
et al.
R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.
J Headache Pain,
2012
Jul
, 13 (419-23).
171
Low SE
et al.
Touch responsiveness in zebrafish requires voltage-gated calcium channel 2.1b.
J. Neurophysiol.,
2012
Jul
, 108 (148-59).
172
Billings SE
et al.
ELKS1 and Ca(2+) channel subunit β4 interact and colocalize at cerebellar synapses.
Neuroreport,
2012
Jan
4
, 23 (49-54).
173
Miyazaki T
et al.
Cav2.1 in cerebellar Purkinje cells regulates competitive excitatory synaptic wiring, cell survival, and cerebellar biochemical compartmentalization.
J. Neurosci.,
2012
Jan
25
, 32 (1311-28).
174
Nanou E
et al.
Molecular determinants of modulation of CaV2.1 channels by visinin-like protein 2.
J. Biol. Chem.,
2012
Jan
2
, 287 (504-13).
175
Rajakulendran S
et al.
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.
,
2012
Jan
17
, ().
176
Eikermann-Haerter K
et al.
Migraine mutations increase stroke vulnerability by facilitating ischemic depolarizations.
Circulation,
2012
Jan
17
, 125 (335-45).
177
Braun AP
Structural remodeling of the N-terminus tunes TRPA1 channel activation and regulates behavioral responses in Drosophila.
,
2012
Jan
1
, 6 ().
178
Passero CJ
et al.
TMPRSS4-dependent activation of the epithelial sodium channel requires cleavage of the γ-subunit distal to the furin cleavage site.
Am. J. Physiol. Renal Physiol.,
2012
Jan
, 302 (F1-8).
179
Stuart S
et al.
Detection of a novel mutation in the CACNA1A gene.
Twin Res Hum Genet,
2012
Feb
, 15 (120-5).
180
Chang Y
et al.
Coenzyme Q10 inhibits the release of glutamate in rat cerebrocortical nerve terminals by suppression of voltage-dependent calcium influx and mitogen-activated protein kinase signaling pathway.
J. Agric. Food Chem.,
2012
Dec
5
, 60 (11909-18).
181
Inchauspe CG
et al.
Presynaptic CaV2.1 calcium channels carrying familial hemiplegic migraine mutation R192Q allow faster recovery from synaptic depression in mouse calyx of Held.
J. Neurophysiol.,
2012
Dec
, 108 (2967-76).
182
Patel AB
et al.
Tissue kallikrein activation of the epithelial Na channel.
Am. J. Physiol. Renal Physiol.,
2012
Aug
15
, 303 (F540-50).
183
Garza-López E
et al.
Familial hemiplegic migraine type 1 mutations W1684R and V1696I alter G protein-mediated regulation of Ca(V)2.1 voltage-gated calcium channels.
Biochim. Biophys. Acta,
2012
Aug
, 1822 (1238-46).
184
Hernández-Vivanco A
et al.
Selectivity of action of pregabalin on Ca(2+) channels but not on fusion pore, exocytotic machinery, or mitochondria in chromaffin cells of the adrenal gland.
J. Pharmacol. Exp. Ther.,
2012
Aug
, 342 (263-72).
187
Li W
et al.
New ataxic tottering-6j mouse allele containing a Cacna1a gene mutation.
PLoS ONE,
2012
, 7 (e44230).
188
Franceschini A
et al.
Functional crosstalk in culture between macrophages and trigeminal sensory neurons of a mouse genetic model of migraine.
BMC Neurosci,
2012
, 13 (143).
189
Carreño O
et al.
Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.
Headache,
2011 Nov-Dec
, 51 (1542-6).
190
Tottene A
et al.
Role of different voltage-gated Ca2+ channels in cortical spreading depression: specific requirement of P/Q-type Ca2+ channels.
Channels (Austin),
2011 Mar-Apr
, 5 (110-4).
191
Yamazaki S
et al.
Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.
Pediatr. Neurol.,
2011
Sep
, 45 (193-6).
192
Hansen JM
et al.
Trigger factors for familial hemiplegic migraine.
Cephalalgia,
2011
Sep
, 31 (1274-81).
193
Geerlings RP
et al.
Head tremor related to CACNA1A mutations.
Cephalalgia,
2011
Sep
, 31 (1315-9).
194
Tsou WL
et al.
Splice isoform-specific suppression of the Cav2.1 variant underlying spinocerebellar ataxia type 6.
Neurobiol. Dis.,
2011
Sep
, 43 (533-42).
195
Horvath GA
et al.
Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.
,
2011
Oct
19
, ().
196
Mathew R
et al.
Immunohistochemical characterization of calcitonin gene-related peptide in the trigeminal system of the familial hemiplegic migraine 1 knock-in mouse.
Cephalalgia,
2011
Oct
, 31 (1368-80).
197
Chen S
et al.
Trs65p, a subunit of the Ypt1p GEF TRAPPII, interacts with the Arf1p exchange factor Gea2p to facilitate COPI-mediated vesicle traffic.
Mol. Biol. Cell,
2011
Oct
, 22 (3634-44).
198
Uchitel OD
et al.
Ca(V)2.1 voltage activated calcium channels and synaptic transmission in familial hemiplegic migraine pathogenesis.
,
2011
Nov
2
, ().
199
Naik S
et al.
Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene.
Pediatr. Neurol.,
2011
Nov
, 45 (328-30).
201
Ceruti S
et al.
Calcitonin gene-related peptide-mediated enhancement of purinergic neuron/glia communication by the algogenic factor bradykinin in mouse trigeminal ganglia from wild-type and R192Q Cav2.1 Knock-in mice: implications for basic mechanisms of migraine pain.
J. Neurosci.,
2011
Mar
9
, 31 (3638-49).
202
Mark MD
et al.
Delayed postnatal loss of P/Q-type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1a mutations.
J. Neurosci.,
2011
Mar
16
, 31 (4311-26).
203
Veneziano L
et al.
Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice.
J. Neurol. Sci.,
2011
Jun
15
, 305 (71-4).
204
Nikaido K
et al.
New mutation of CACNA1A gene in episodic ataxia type 2.
Pediatr Int,
2011
Jun
, 53 (415-6).
205
Strupp M
et al.
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
Neurology,
2011
Jul
19
, 77 (269-75).
206
Borroto-Escuela DO
et al.
Moonlighting characteristics of G protein-coupled receptors: Focus on receptor heteromers and relevance for neurodegeneration.
IUBMB Life,
2011
Jul
, 63 (463-72).
207
Bezprozvanny I
Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias.
Neurochem. Res.,
2011
Jul
, 36 (1186-97).
208
Freilinger T
et al.
A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.
J. Neurol. Sci.,
2011
Jan
15
, 300 (160-3).
209
Stam AH
et al.
A long-term follow-up study of 18 patients with sporadic hemiplegic migraine.
Cephalalgia,
2011
Jan
, 31 (199-205).
210
Kahle JJ
et al.
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Hum. Mol. Genet.,
2011
Feb
1
, 20 (510-27).
211
Knierim E
et al.
Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.
Stroke,
2011
Feb
, 42 (e14-7).
212
Few AP
et al.
Molecular determinants of CaV2.1 channel regulation by calcium-binding protein-1.
J. Biol. Chem.,
2011
Dec
9
, 286 (41917-23).
213
Yalçın O
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies.
,
2011
Dec
27
, ().
214
Fioretti B
et al.
Trigeminal ganglion neuron subtype-specific alterations of Ca(V)2.1 calcium current and excitability in a Cacna1a mouse model of migraine.
J. Physiol. (Lond.),
2011
Dec
1
, 589 (5879-95).
215
Cens T
et al.
Two sets of amino acids of the domain I of Cav2.3 Ca(2+) channels contribute to their high sensitivity to extracellular protons.
Pflugers Arch.,
2011
Aug
, 462 (303-14).
216
Figueroa KP
et al.
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
PLoS ONE,
2011
, 6 (e17811).
217
Currie KP
G protein modulation of CaV2 voltage-gated calcium channels.
Channels (Austin),
2010 Nov-Dec
, 4 (497-509).
218
Allen SE
et al.
The neuronal splicing factor Nova controls alternative splicing in N-type and P-type CaV2 calcium channels.
Channels (Austin),
2010 Nov-Dec
, 4 (483-9).
219
Sułek-Piatkowska A
et al.
The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.
Neurol. Neurochir. Pol.,
2010 May-Jun
, 44 (238-45).
220
Cohen-Kutner M
et al.
CaV2.1 (P/Q channel) interaction with synaptic proteins is essential for depolarization-evoked release.
Channels (Austin),
2010 Jul-Aug
, 4 (266-77).
221
Melzer N
et al.
Fluctuating neuromuscular transmission defects and inverse acetazolamide response in episodic ataxia type 2 associated with the novel CaV2.1 single amino acid substitution R2090Q.
J. Neurol. Sci.,
2010
Sep
15
, 296 (104-6).
222
Riant F
et al.
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.
Neurology,
2010
Sep
14
, 75 (967-72).
223
Abouda H
et al.
Familial form of typical childhood absence epilepsy in a consanguineous context.
Epilepsia,
2010
Sep
, 51 (1889-93).
225
Kaja S
et al.
Severe and progressive neurotransmitter release aberrations in familial hemiplegic migraine type 1 Cacna1a S218L knock-in mice.
J. Neurophysiol.,
2010
Sep
, 104 (1445-55).
226
Adams PJ
et al.
Contribution of calcium-dependent facilitation to synaptic plasticity revealed by migraine mutations in the P/Q-type calcium channel.
Proc. Natl. Acad. Sci. U.S.A.,
2010
Oct
26
, 107 (18694-9).
227
Takahashi E
et al.
Subthreshold pharmacological and genetic approaches to analyzing CaV2.1-mediated NMDA receptor signaling in short-term memory.
Eur. J. Pharmacol.,
2010
Oct
25
, 645 (113-8).
228
Rajakulendran S
et al.
PAW31 Clinical and genetic spectrum of the episodic ataxias: the UK perspective.
J. Neurol. Neurosurg. Psychiatr.,
2010
Nov
, 81 (e32).
229
Watase K
et al.
[SCA6: From gene identification to recent progress on pathogenesis].
Rinsho Shinkeigaku,
2010
Nov
, 50 (858-60).
230
Alviña K
et al.
KCa channels as therapeutic targets in episodic ataxia type-2.
J. Neurosci.,
2010
May
26
, 30 (7249-57).
231
Kim JM
et al.
The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6.
J. Neurol. Neurosurg. Psychiatr.,
2010
May
, 81 (529-32).
232
Takahashi E
et al.
Neonatal motor functions in Cacna1a-mutant rolling Nagoya mice.
Behav. Brain Res.,
2010
Mar
5
, 207 (273-9).
233
Russell MB
Management of sporadic and familial hemiplegic migraine.
Expert Rev Neurother,
2010
Mar
, 10 (381-7).
234
Vick KA
et al.
In vivo pharmacological manipulation of small conductance Ca(2+)-activated K(+) channels influences motor behavior, object memory and fear conditioning.
Neuropharmacology,
2010
Mar
, 58 (650-9).
235
Pietrobon D
Insights into migraine mechanisms and CaV2.1 calcium channel function from mouse models of familial hemiplegic migraine.
J. Physiol. (Lond.),
2010
Jun
1
, 588 (1871-8).
236
Rajakulendran S
et al.
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.
J. Physiol. (Lond.),
2010
Jun
1
, 588 (1905-13).
237
Wang X
et al.
A neuropathological study at autopsy of early onset spinocerebellar ataxia 6.
J Clin Neurosci,
2010
Jun
, 17 (751-5).
238
Cleves C
et al.
Link between confusional migraine, hemiplegic migraine and episodic ataxia type 2: hypothesis, family genealogy, gene typing and classification.
Cephalalgia,
2010
Jun
, 30 (740-3).
240
Klychnikov OI
et al.
Quantitative cortical synapse proteomics of a transgenic migraine mouse model with mutated Ca(V)2.1 calcium channels.
Proteomics,
2010
Jul
, 10 (2531-5).
241
Blumkin L
et al.
Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.
J. Child Neurol.,
2010
Jul
, 25 (892-7).
242
Inchauspe CG
et al.
Gain of function in FHM-1 Ca(V)2.1 knock-in mice is related to the shape of the action potential.
J. Neurophysiol.,
2010
Jul
, 104 (291-9).
243
Serra SA
et al.
A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.
Proc. Natl. Acad. Sci. U.S.A.,
2010
Jan
26
, 107 (1672-7).
244
Perez-Burgos A
et al.
CaV2.1 channels are modulated by muscarinic M1 receptors through phosphoinositide hydrolysis in neostriatal neurons.
Neuroscience,
2010
Jan
20
, 165 (293-9).
245
Malpas TJ
et al.
Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.
Dev Med Child Neurol,
2010
Jan
, 52 (103-4).
246
Wong FK
et al.
Rab3a interacting molecule (RIM) and the tethering of pre-synaptic transmitter release site-associated CaV2.2 calcium channels.
J. Neurochem.,
2010
Jan
, 112 (463-73).
247
Van Den Maagdenberg AM
et al.
High cortical spreading depression susceptibility and migraine-associated symptoms in Ca(v)2.1 S218L mice.
Ann. Neurol.,
2010
Jan
, 67 (85-98).
248
Kreiner L
et al.
Compensatory regulation of Cav2.1 Ca2+ channels in cerebellar Purkinje neurons lacking parvalbumin and calbindin D-28k.
J. Neurophysiol.,
2010
Jan
, 103 (371-81).
249
Zangaladze A
et al.
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation.
Epilepsy Behav,
2010
Feb
, 17 (293-5).
250
Choi S
et al.
Subthreshold membrane potential oscillations in inferior olive neurons are dynamically regulated by P/Q- and T-type calcium channels: a study in mutant mice.
J. Physiol. (Lond.),
2010
Aug
15
, 588 (3031-43).
251
Romaniello R
et al.
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
J. Neurol. Neurosurg. Psychiatr.,
2010
Aug
, 81 (840-3).
252
Mantuano E
et al.
Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.
J. Neurol. Sci.,
2010
Apr
15
, 291 (30-6).
253
Chai Y
et al.
Stimulation of neuronal KATP channels by cGMP-dependent protein kinase: involvement of ROS and 5-hydroxydecanoate-sensitive factors in signal transduction.
Am. J. Physiol., Cell Physiol.,
2010
Apr
, 298 (C875-92).
254
Ishiguro T
et al.
The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.
Acta Neuropathol.,
2010
Apr
, 119 (447-64).
256
Sawada K
et al.
Zebrin II expressing Purkinje cell phenotype-related and -unrelated cerebellar abnormalities in Cav2.1 mutant, rolling mouse Nagoya.
ScientificWorldJournal,
2010
, 10 (2032-8).
257
Jung J
et al.
Phenotypic variability of episodic ataxia type 2 mutations: a family study.
Eur. Neurol.,
2010
, 64 (114-6).
258
259
Fosgerau K
et al.
Increased susceptibility to cardiovascular effects of dihydrocapcaicin in resuscitated rats. Cardiovascular effects of dihydrocapsaicin.
BMC Cardiovasc Disord,
2010
, 10 (39).
260
Adams PJ
et al.
Ca(V)2.1 P/Q-type calcium channel alternative splicing affects the functional impact of familial hemiplegic migraine mutations: implications for calcium channelopathies.
Channels (Austin),
2009 Mar-Apr
, 3 (110-21).
261
Tavraz NN
et al.
Impaired plasma membrane targeting or protein stability by certain ATP1A2 mutations identified in sporadic or familial hemiplegic migraine.
Channels (Austin),
2009 Mar-Apr
, 3 (82-7).
262
Sones WR
et al.
Inhibition of vascular calcium-gated chloride currents by blockers of KCa1.1, but not by modulators of KCa2.1 or KCa2.3 channels.
Br. J. Pharmacol.,
2009
Sep
, 158 (521-31).
263
Plomp JJ
et al.
The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.
Cerebellum,
2009
Sep
, 8 (222-30).
264
Stam AH
et al.
Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.
J. Neurol. Neurosurg. Psychiatr.,
2009
Oct
, 80 (1125-9).
265
Selmer KK
et al.
Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Clin. Genet.,
2009
Oct
, 76 (398-403).
266
Tomlinson SE
et al.
Clinical neurophysiology of the episodic ataxias: insights into ion channel dysfunction in vivo.
Clin Neurophysiol,
2009
Oct
, 120 (1768-76).
267
Eikermann-Haerter K
et al.
Androgenic suppression of spreading depression in familial hemiplegic migraine type 1 mutant mice.
Ann. Neurol.,
2009
Oct
, 66 (564-8).
268
Auvin S
et al.
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.
Epilepsia,
2009
Nov
, 50 (2501-3).
269
Bertholon P
et al.
Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood.
J. Neurol. Neurosurg. Psychiatr.,
2009
Nov
, 80 (1289-92).
270
Li L
et al.
Deficit of heat shock transcription factor 1-heat shock 70 kDa protein 1A axis determines the cell death vulnerability in a model of spinocerebellar ataxia type 6.
Genes Cells,
2009
Nov
, 14 (1253-69).
271
Lewis BB
et al.
Cloning and characterization of voltage-gated calcium channel alpha1 subunits in Xenopus laevis during development.
Dev. Dyn.,
2009
Nov
, 238 (2891-902).
272
Labrum RW
et al.
Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.
J. Med. Genet.,
2009
Nov
, 46 (786-91).
273
Ishikawa K
et al.
[Molecular genetic approach to spinocerebellar ataxias]
Rinsho Shinkeigaku,
2009
Nov
, 49 (907-9).
274
Cuenca-León E
et al.
Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
J. Neurol. Sci.,
2009
May
15
, 280 (10-4).
275
Damak M
et al.
Late onset hereditary episodic ataxia.
J. Neurol. Neurosurg. Psychiatr.,
2009
May
, 80 (566-8).
276
Iwanaka Y
et al.
[Case of sporadic hemiplegic migraine with cerebellar ataxia]
Rinsho Shinkeigaku,
2009
May
, 49 (267-70).
277
Jen JC
et al.
Familial episodic ataxia: a model for migrainous vertigo.
Ann. N. Y. Acad. Sci.,
2009
May
, 1164 (252-6).
278
Vahedi K
et al.
Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.
Neurology,
2009
Mar
31
, 72 (1178-83).
279
Ohba T
et al.
Modified autonomic regulation in mice with a P/Q-type calcium channel mutation.
Biochem. Biophys. Res. Commun.,
2009
Mar
27
, 381 (27-32).
280
D'Onofrio M
et al.
The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility.
Neurosci. Lett.,
2009
Mar
27
, 453 (12-5).
281
Tottene A
et al.
Enhanced excitatory transmission at cortical synapses as the basis for facilitated spreading depression in Ca(v)2.1 knockin migraine mice.
Neuron,
2009
Mar
12
, 61 (762-73).
282
Zafeiriou DI
et al.
Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation.
Eur. J. Paediatr. Neurol.,
2009
Mar
, 13 (191-3).
283
Castro MJ
et al.
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
Cephalalgia,
2009
Mar
, 29 (308-13).
284
Takahashi E
et al.
Motor coordination impairment in aged heterozygous rolling Nagoya, Cav2.1 mutant mice.
Brain Res.,
2009
Jul
7
, 1279 (50-7).
285
Riant F
et al.
Identification of CACNA1A large deletions in four patients with episodic ataxia.
Neurogenetics,
2009
Jul
25
, ().
286
Serra SA
et al.
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.
Pflugers Arch.,
2009
Jul
, 458 (489-502).
287
Horak S
et al.
Use-dependent block of voltage-gated Cav2.1 Ca2+ channels by petasins and eudesmol isomers.
J. Pharmacol. Exp. Ther.,
2009
Jul
, 330 (220-6).
289
Robbins MS
et al.
CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.
Headache,
2009
Jul
, 49 (1042-6).
290
Veneziano L
et al.
Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.
J. Neurol. Sci.,
2009
Jan
15
, 276 (31-7).
291
Nakatani Y
et al.
Cav2.1 voltage-dependent Ca2+ channel current is inhibited by serum from select patients with Guillain-Barré syndrome.
Neurochem. Res.,
2009
Jan
, 34 (149-57).
292
Gargus JJ
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism.
Ann. N. Y. Acad. Sci.,
2009
Jan
, 1151 (133-56).
293
Yu-Wai-Man P
et al.
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.
J. Neurol.,
2009
Jan
, 256 (78-82).
294
Eikermann-Haerter K
et al.
Genetic and hormonal factors modulate spreading depression and transient hemiparesis in mouse models of familial hemiplegic migraine type 1.
J. Clin. Invest.,
2009
Jan
, 119 (99-109).
296
Frank CA
et al.
A presynaptic homeostatic signaling system composed of the Eph receptor, ephexin, Cdc42, and CaV2.1 calcium channels.
Neuron,
2009
Feb
26
, 61 (556-69).
297
Villmann C
et al.
Functional complementation of Glra1(spd-ot), a glycine receptor subunit mutant, by independently expressed C-terminal domains.
J. Neurosci.,
2009
Feb
25
, 29 (2440-52).
298
Wiwanitkit V
FHM3 in familial hemiplegic migraine is more resistant to mutation than FHM1 and FHM2.
J. Neurol. Sci.,
2009
Feb
15
, 277 (76-9).
299
Smyth LM
et al.
N-type and P/Q-type calcium channels regulate differentially the release of noradrenaline, ATP and beta-NAD in blood vessels.
Neuropharmacology,
2009
Feb
, 56 (368-78).
300
Sankaranarayanan A
et al.
Naphtho[1,2-d]thiazol-2-ylamine (SKA-31), a new activator of KCa2 and KCa3.1 potassium channels, potentiates the endothelium-derived hyperpolarizing factor response and lowers blood pressure.
Mol. Pharmacol.,
2009
Feb
, 75 (281-95).
301
Wang Z
et al.
[Implanting the conducting electrode in rat and investigating its effect on the rat's penicillin-induced seizure]
Sheng Wu Yi Xue Gong Cheng Xue Za Zhi,
2009
Feb
, 26 (63-6).
302
303
Zamponi GW
et al.
Role of voltage-gated calcium channels in epilepsy.
,
2009
Dec
20
, ().
304
Saito H
et al.
Knockdown of Cav2.1 calcium channels is sufficient to induce neurological disorders observed in natural occurring Cacna1a mutants in mice.
Biochem. Biophys. Res. Commun.,
2009
Dec
18
, 390 (1029-33).
305
Takahashi E
et al.
Age-related spatial and nonspatial short-term memory in Cav2.1alpha1 mutant mice, Rolling Nagoya.
Behav. Brain Res.,
2009
Dec
1
, 204 (241-5).
306
Debiais S
et al.
The FHM1 mutation S218L: a severe clinical phenotype? A case report and review of the literature.
Cephalalgia,
2009
Dec
, 29 (1337-9).
307
Lonchamp E
et al.
Deletion of Cav2.1(alpha1(A)) subunit of Ca2+-channels impairs synaptic GABA and glutamate release in the mouse cerebellar cortex in cultured slices.
Eur. J. Neurosci.,
2009
Dec
, 30 (2293-307).
308
Iturralde-Torres P
et al.
[Genetic in long QT syndromes]
Arch Cardiol Mex,
2009
Dec
, 79 Suppl 2 (26-30).
309
Chen P
et al.
[Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi,
2009
Dec
, 26 (626-33).
310
Self J
et al.
Infantile nystagmus and late onset ataxia associated with a CACNA1A mutation in the intracellular loop between s4 and s5 of domain 3.
Eye (Lond),
2009
Dec
, 23 (2251-5).
311
Leyris JP
et al.
RGK GTPase-dependent CaV2.1 Ca2+ channel inhibition is independent of CaVbeta-subunit-induced current potentiation.
FASEB J.,
2009
Aug
, 23 (2627-38).
312
Takahashi E
et al.
Spatial learning deficit in aged heterozygous Cav2.1 channel mutant mice, rolling mouse Nagoya.
Exp. Gerontol.,
2009
Apr
, 44 (274-9).
313
Gerola S
et al.
CACNA1A gene non-synonymous single nucleotide polymorphisms and common migraine in Italy: a case-control association study with a micro-array technology.
Clin. Chem. Lab. Med.,
2009
, 47 (783-5).
314
Sawada K
et al.
Striking pattern of Purkinje cell loss in cerebellum of an ataxic mutant mouse, tottering.
,
2009
, 69 (138-45).
316
Carattino MD
et al.
Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation.
J. Biol. Chem.,
2008
Sep
12
, 283 (25290-5).
317
Teive HA
et al.
Spinocerebellar ataxia type 6 in Brazil.
Arq Neuropsiquiatr,
2008
Sep
, 66 (691-4).
318
Thomsen LL
et al.
Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients.
Cephalalgia,
2008
Sep
, 28 (914-21).
319
Mich PM
et al.
Alternative splicing of the Ca2+ channel beta4 subunit confers specificity for gabapentin inhibition of Cav2.1 trafficking.
Mol. Pharmacol.,
2008
Sep
, 74 (904-12).
321
van Oosterhout F
et al.
Enhanced circadian phase resetting in R192Q Cav2.1 calcium channel migraine mice.
Ann. Neurol.,
2008
Sep
, 64 (315-24).
322
Roubertie A
et al.
Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family.
J. Neurol.,
2008
Oct
, 255 (1600-2).
323
Graves TD
et al.
Premature stop codons in a facilitating EF-hand splice variant of CaV2.1 cause episodic ataxia type 2.
Neurobiol. Dis.,
2008
Oct
, 32 (10-5).
324
Cuenca-León E
et al.
Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.
Cephalalgia,
2008
Oct
, 28 (1039-47).
325
Yabe I
et al.
Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family.
J. Neurol.,
2008
Oct
, 255 (1541-4).
326
Globas C
et al.
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
Mov. Disord.,
2008
Nov
15
, 23 (2232-8).
327
Nyholt DR
et al.
A high-density association screen of 155 ion transport genes for involvement with common migraine.
Hum. Mol. Genet.,
2008
Nov
1
, 17 (3318-31).
328
Guerin AA
et al.
Stepwise developmental regression associated with novel CACNA1A mutation.
Pediatr. Neurol.,
2008
Nov
, 39 (363-4).
329
Alonso I
et al.
Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant.
Neurobiol. Aging,
2008
Nov
, 29 (1733-43).
330
Stam AH
et al.
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
Clin. Genet.,
2008
Nov
, 74 (481-5).
331
Weiss N
et al.
The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
Pflugers Arch.,
2008
Nov
, 457 (315-26).
332
Kaja S
et al.
Reduced ACh release at neuromuscular synapses of heterozygous leaner Ca(v)2.1-mutant mice.
Synapse,
2008
May
, 62 (337-44).
333
Krishnan AV
et al.
Axonal function in a family with episodic ataxia type 2 due to a novel mutation.
J. Neurol.,
2008
May
, 255 (750-5).
334
Rajapaksha WR
et al.
Novel splice variants of rat CaV2.1 that lack much of the synaptic protein interaction site are expressed in neuroendocrine cells.
J. Biol. Chem.,
2008
Jun
6
, 283 (15997-6003).
335
Su X
et al.
Role of spinal Cav2.2 and Cav2.1 ion channels in bladder nociception.
J. Urol.,
2008
Jun
, 179 (2464-9).
336
Stam AH
et al.
Genetics of migraine: an update with special attention to genetic comorbidity.
Curr. Opin. Neurol.,
2008
Jun
, 21 (288-93).
337
Riant F
et al.
Large CACNA1A deletion in a family with episodic ataxia type 2.
Arch. Neurol.,
2008
Jun
, 65 (817-20).
338
Miki T
et al.
Two novel alleles of tottering with distinct Ca(v)2.1 calcium channel neuropathologies.
Neuroscience,
2008
Jul
31
, 155 (31-44).
339
Cestèle S
et al.
Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel.
J. Neurosci.,
2008
Jul
16
, 28 (7273-83).
340
Kahlig KM
et al.
Divergent sodium channel defects in familial hemiplegic migraine.
Proc. Natl. Acad. Sci. U.S.A.,
2008
Jul
15
, 105 (9799-804).
341
Marquèze-Pouey B
et al.
Toxicity and endocytosis of spinocerebellar ataxia type 6 polyglutamine domains: role of myosin IIb.
Traffic,
2008
Jul
, 9 (1088-100).
342
Jiang X
et al.
Modulation of CaV2.1 channels by Ca2+/calmodulin-dependent protein kinase II bound to the C-terminal domain.
Proc. Natl. Acad. Sci. U.S.A.,
2008
Jan
8
, 105 (341-6).
343
Ovsepian SV
et al.
The leaner P/Q-type calcium channel mutation renders cerebellar Purkinje neurons hyper-excitable and eliminates Ca2+-Na+ spike bursts.
Eur. J. Neurosci.,
2008
Jan
, 27 (93-103).
344
Fernandez DM
et al.
A novel ATP1A2 gene mutation in an Irish familial hemiplegic migraine kindred.
Headache,
2008
Jan
, 48 (101-8).
345
Lee H
et al.
[Familial hemiplegic migraine resulting in recurrent coma]
,
2008
Feb
16
, 152 (393-6).
346
Jeng CJ
et al.
Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.
J. Cell. Physiol.,
2008
Feb
, 214 (422-33).
347
Jen JC
Recent advances in the genetics of recurrent vertigo and vestibulopathy.
Curr. Opin. Neurol.,
2008
Feb
, 21 (3-7).
348
Tsunemi T
et al.
Cell-type-specific alternative splicing in spinocerebellar ataxia type 6.
Neurosci. Lett.,
2008
Dec
5
, 447 (78-81).
349
Watase K
et al.
Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels.
Proc. Natl. Acad. Sci. U.S.A.,
2008
Aug
19
, 105 (11987-92).
350
Berkefeld H
et al.
Repolarizing responses of BKCa-Cav complexes are distinctly shaped by their Cav subunits.
J. Neurosci.,
2008
Aug
13
, 28 (8238-45).
351
Chai Y
et al.
Dual regulation of the ATP-sensitive potassium channel by activation of cGMP-dependent protein kinase.
Pflugers Arch.,
2008
Aug
, 456 (897-915).
352
Hu P
et al.
Crystal structure of Natratoxin, a novel snake secreted phospholipaseA2 neurotoxin from Naja atra venom inhibiting A-type K+ currents.
Proteins,
2008
Aug
, 72 (673-83).
353
Chan YC
et al.
Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation.
,
2008
Aug
, 15 (891-4).
354
de Vries B
et al.
CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.
Cephalalgia,
2008
Aug
, 28 (887-91).
355
Morey Kinney SR
et al.
Stage-specific alterations of DNA methyltransferase expression, DNA hypermethylation, and DNA hypomethylation during prostate cancer progression in the transgenic adenocarcinoma of mouse prostate model.
Mol. Cancer Res.,
2008
Aug
, 6 (1365-74).
356
Mezghrani A
et al.
A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.
J. Neurosci.,
2008
Apr
23
, 28 (4501-11).
357
Freilinger T
et al.
Expansion of the phenotypic spectrum of the CACNA1A T666M mutation: a family with familial hemiplegic migraine type 1, cerebellar atrophy and mental retardation.
Cephalalgia,
2008
Apr
, 28 (403-7).
358
Christova P
et al.
Impaired eye movements in presymptomatic spinocerebellar ataxia type 6.
Arch. Neurol.,
2008
Apr
, 65 (530-6).
359
Johnson J
et al.
Clinical and genetic analysis of spinocerebellar ataxia type 11.
Cerebellum,
2008
, 7 (159-64).
360
Marti S
et al.
Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.
Eur. Neurol.,
2008
, 60 (16-20).
361
Jones HM
et al.
An NH2-terminal multi-basic RKR motif is required for the ATP-dependent regulation of hIK1.
Channels (Austin),
2007 Mar-Apr
, 1 (80-91).
362
Jordan BD
Genetic influences on outcome following traumatic brain injury.
Neurochem. Res.,
2007 Apr-May
, 32 (905-15).
363
Tanaka K
et al.
Increased Ca2+ channel currents in cerebellar Purkinje cells of the ataxic groggy rat.
Neurosci. Lett.,
2007
Oct
16
, 426 (75-80).
364
Gazulla J
et al.
[P/Q-type voltage-dependent calcium channels in neurological disease]
,
2007
Oct
, 22 (511-6).
365
Jen JC
et al.
Primary episodic ataxias: diagnosis, pathogenesis and treatment.
Brain,
2007
Oct
, 130 (2484-93).
366
Llinás RR
et al.
Gamma-band deficiency and abnormal thalamocortical activity in P/Q-type channel mutant mice.
Proc. Natl. Acad. Sci. U.S.A.,
2007
Nov
6
, 104 (17819-24).
367
Xie G
et al.
Forward genetic screen of mouse reveals dominant missense mutation in the P/Q-type voltage-dependent calcium channel, CACNA1A.
Genes Brain Behav.,
2007
Nov
, 6 (717-27).
368
Richards KS
et al.
Novel CaV2.1 clone replicates many properties of Purkinje cell CaV2.1 current.
Eur. J. Neurosci.,
2007
Nov
, 26 (2950-61).
369
Zaitsev AV
et al.
P/Q-type, but not N-type, calcium channels mediate GABA release from fast-spiking interneurons to pyramidal cells in rat prefrontal cortex.
J. Neurophysiol.,
2007
May
, 97 (3567-73).
370
Vanmolkot KR
et al.
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.
Hum. Mutat.,
2007
May
, 28 (522).
371
Gazulla J
et al.
The P/Q-type voltage-dependent calcium channel: a therapeutic target in spinocerebellar ataxia type 6.
Acta Neurol. Scand.,
2007
May
, 115 (356-63).
373
Montagna P
Recent advances in the pharmacogenomics of pain and headache.
Neurol. Sci.,
2007
May
, 28 Suppl 2 (S208-12).
374
Chaudhuri D
et al.
Elementary mechanisms producing facilitation of Cav2.1 (P/Q-type) channels.
J. Gen. Physiol.,
2007
May
, 129 (385-401).
375
Cricchi F
et al.
Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
J. Neurol. Sci.,
2007
Mar
15
, 254 (69-71).
376
Chen H
et al.
Altered frequency-dependent inactivation and steady-state inactivation of polyglutamine-expanded alpha1A in SCA6.
Am. J. Physiol., Cell Physiol.,
2007
Mar
, 292 (C1078-86).
377
Mao X
et al.
Dual regulation of the ATP-sensitive potassium channel by caffeine.
Am. J. Physiol., Cell Physiol.,
2007
Jun
, 292 (C2239-58).
378
Van Den Maagdenberg AM
et al.
Migraine: gene mutations and functional consequences.
Curr. Opin. Neurol.,
2007
Jun
, 20 (299-305).
380
Yin XZ
et al.
[The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7]
Yi Chuan,
2007
Jun
, 29 (688-92).
381
Meza U
et al.
Neurokinin 1 receptors trigger overlapping stimulation and inhibition of CaV2.3 (R-type) calcium channels.
Mol. Pharmacol.,
2007
Jan
, 71 (284-93).
382
Goadsby PJ
Recent advances in understanding migraine mechanisms, molecules and therapeutics.
,
2007
Jan
, 13 (39-44).
383
Weiss N
et al.
[Role of P/Q calcium channel in familial hemiplegic migraine]
Med Sci (Paris),
2007
Jan
, 23 (53-63).
384
Kaja S
et al.
Characterization of acetylcholine release and the compensatory contribution of non-Ca(v)2.1 channels at motor nerve terminals of leaner Ca(v)2.1-mutant mice.
Neuroscience,
2007
Feb
23
, 144 (1278-87).
385
Tokuda S
et al.
The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures.
Brain Res.,
2007
Feb
16
, 1133 (168-77).
386
Raike RS
et al.
Dominant-negative suppression of Cav2.1 currents by alpha(1)2.1 truncations requires the conserved interaction domain for beta subunits.
Mol. Cell. Neurosci.,
2007
Feb
, 34 (168-77).
387
Colson NJ
et al.
The search for migraine genes: an overview of current knowledge.
Cell. Mol. Life Sci.,
2007
Feb
, 64 (331-44).
388
Saegusa H
et al.
Properties of human Cav2.1 channel with a spinocerebellar ataxia type 6 mutation expressed in Purkinje cells.
Mol. Cell. Neurosci.,
2007
Feb
, 34 (261-70).
389
Thomsen LL
et al.
The genetic spectrum of a population-based sample of familial hemiplegic migraine.
Brain,
2007
Feb
, 130 (346-56).
390
de Vries B
et al.
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine.
Neurology,
2007
Dec
4
, 69 (2170-6).
391
Mantuano E
et al.
Early onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.
J. Neurol. Sci.,
2007
Dec
15
, 263 (226; author reply 226-7).
392
Tonelli A
et al.
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.
Clin. Genet.,
2007
Dec
, 72 (517-23).
393
Katsura M
et al.
Up-regulation of L-type high voltage-gated calcium channel subunits by sustained exposure to 1,4- and 1,5-benzodiazepines in cerebrocortical neurons.
J. Neurochem.,
2007
Dec
, 103 (2518-28).
394
Glasscock E
et al.
Masking epilepsy by combining two epilepsy genes.
Nat. Neurosci.,
2007
Dec
, 10 (1554-8).
395
Gargus JJ
et al.
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3.
Pediatr. Neurol.,
2007
Dec
, 37 (407-10).
396
Kaja S
et al.
Aberrant cerebellar granule cell-specific GABAA receptor expression in the epileptic and ataxic mouse mutant, Tottering.
Neuroscience,
2007
Aug
10
, 148 (115-25).
397
Etheredge JA
et al.
Functional compensation by other voltage-gated Ca2+ channels in mouse basal forebrain neurons with Ca(V)2.1 mutations.
Brain Res.,
2007
Apr
6
, 1140 (105-19).
398
Kaja S
et al.
Redundancy of Cav2.1 channel accessory subunits in transmitter release at the mouse neuromuscular junction.
Brain Res.,
2007
Apr
27
, 1143 (92-101).
401
Kordasiewicz HB
et al.
Molecular pathogenesis of spinocerebellar ataxia type 6.
,
2007
Apr
, 4 (285-94).
402
Bozzola E
et al.
[Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach]
Minerva Pediatr.,
2007
Apr
, 59 (149-56).
403
Kaja S
et al.
Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya.
Eur. J. Neurosci.,
2007
Apr
, 25 (2009-20).
404
Gazulla J
et al.
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
Med. Hypotheses,
2007
, 68 (131-6).
405
Wulff H
et al.
Modulators of small- and intermediate-conductance calcium-activated potassium channels and their therapeutic indications.
Curr. Med. Chem.,
2007
, 14 (1437-57).
406
von Brevern M
et al.
Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
Headache,
2006 Jul-Aug
, 46 (1136-41).
407
Andrés-Mateos E
et al.
Bovine CACNA1A gene and comparative analysis of the CAG repeats associated to human spinocerebellar ataxia type-6.
Gene,
2006
Sep
15
, 380 (54-61).
408
Lopes LR
et al.
Mutation analysis of CACNA1A and ATP1A2 genes in Brazilian FHM families.
,
2006
Sep
, 64 (549-52).
409
Berkefeld H
et al.
BKCa-Cav channel complexes mediate rapid and localized Ca2+-activated K+ signaling.
Science,
2006
Oct
27
, 314 (615-20).
410
Estevez AO
et al.
Both insulin and calcium channel signaling are required for developmental regulation of serotonin synthesis in the chemosensory ADF neurons of Caenorhabditis elegans.
Dev. Biol.,
2006
Oct
1
, 298 (32-44).
411
Yang SN
et al.
The role of voltage-gated calcium channels in pancreatic beta-cell physiology and pathophysiology.
Endocr. Rev.,
2006
Oct
, 27 (621-76).
413
Vinet J
et al.
Expression pattern of voltage-dependent calcium channel subunits in hippocampal inhibitory neurons in mice.
Neuroscience,
2006
Nov
17
, 143 (189-212).
414
Kordasiewicz HB
et al.
C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.
Hum. Mol. Genet.,
2006
May
15
, 15 (1587-99).
415
Vendel AC
et al.
Alternative splicing of the voltage-gated Ca2+ channel beta4 subunit creates a uniquely folded N-terminal protein binding domain with cell-specific expression in the cerebellar cortex.
J. Neurosci.,
2006
Mar
8
, 26 (2635-44).
416
Kirchmann M
et al.
Basilar-type migraine: clinical, epidemiologic, and genetic features.
Neurology,
2006
Mar
28
, 66 (880-6).
417
Sasaki S
et al.
Impaired feedforward inhibition of the thalamocortical projection in epileptic Ca2+ channel mutant mice, tottering.
J. Neurosci.,
2006
Mar
15
, 26 (3056-65).
418
Stahl JS
et al.
Eye movements of the murine P/Q calcium channel mutant tottering, and the impact of aging.
J. Neurophysiol.,
2006
Mar
, 95 (1588-607).
419
Walter JT
et al.
Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia.
Nat. Neurosci.,
2006
Mar
, 9 (389-97).
420
Rapedius M
et al.
Structural and functional analysis of the putative pH sensor in the Kir1.1 (ROMK) potassium channel.
EMBO Rep.,
2006
Jun
, 7 (611-6).
421
Macleod GT
et al.
The Drosophila cacts2 mutation reduces presynaptic Ca2+ entry and defines an important element in Cav2.1 channel inactivation.
Eur. J. Neurosci.,
2006
Jun
, 23 (3230-44).
422
Liu WL
et al.
[Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]
Zhonghua Nei Ke Za Zhi,
2006
Jun
, 45 (463-6).
423
Estevez M
Invertebrate modeling of a migraine channelopathy.
Headache,
2006
Jun
, 46 Suppl 1 (S25-31).
424
Halling DB
et al.
Regulation of voltage-gated Ca2+ channels by calmodulin.
Sci. STKE,
2006
Jan
17
, 2006 (er1).
425
Kanumilli S
et al.
Alternative splicing generates a smaller assortment of CaV2.1 transcripts in cerebellar Purkinje cells than in the cerebellum.
Physiol. Genomics,
2006
Jan
12
, 24 (86-96).
426
Srivastava S
et al.
Phosphatidylinositol 3-phosphate indirectly activates KCa3.1 via 14 amino acids in the carboxy terminus of KCa3.1.
Mol. Biol. Cell,
2006
Jan
, 17 (146-54).
427
Jackson SN
et al.
Phosphate stabilization of intermolecular interactions.
J. Proteome Res.,
2006
Jan
, 5 (122-6).
428
Lindquist SG
et al.
Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case.
J. Neurol. Sci.,
2006
Feb
15
, 241 (95-8).
429
Tonelli A
et al.
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
J. Neurol. Sci.,
2006
Feb
15
, 241 (13-7).
430
Zhang C
et al.
Identification and characterization of a novel member of the ATP-sensitive K+ channel subunit family, Kir6.3, in zebrafish.
Physiol. Genomics,
2006
Feb
14
, 24 (290-7).
431
Scoggan KA
et al.
CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.
,
2006
Feb
, 33 (68-72).
432
Park JY
et al.
Activation of protein kinase C augments T-type Ca2+ channel activity without changing channel surface density.
J. Physiol. (Lond.),
2006
Dec
1
, 577 (513-23).
433
Todorov B
et al.
Conditional inactivation of the Cacna1a gene in transgenic mice.
Genesis,
2006
Dec
, 44 (589-94).
434
Kodama T
et al.
A CaV2.1 calcium channel mutation rocker reduces the number of postsynaptic AMPA receptors in parallel fiber-Purkinje cell synapses.
Eur. J. Neurosci.,
2006
Dec
, 24 (2993-3007).
435
Davies A
et al.
The calcium channel alpha2delta-2 subunit partitions with CaV2.1 into lipid rafts in cerebellum: implications for localization and function.
J. Neurosci.,
2006
Aug
23
, 26 (8748-57).
436
Schenning M
et al.
Glycerotoxin stimulates neurotransmitter release from N-type Ca2+ channel expressing neurons.
J. Neurochem.,
2006
Aug
, 98 (894-904).
437
Kirchmann M
et al.
The CACNA1A and ATP1A2 genes are not involved in dominantly inherited migraine with aura.
Am. J. Med. Genet. B Neuropsychiatr. Genet.,
2006
Apr
5
, 141B (250-6).
438
Martin-Moutot N
et al.
Phoneutria nigriventer omega-Phonetoxin IIA: a new tool for anti-calcium channel autoantibody assays in Lambert-Eaton myasthenic syndrome.
Neurobiol. Dis.,
2006
Apr
, 22 (57-63).
439
Jeng CJ
et al.
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2.
Am. J. Physiol., Cell Physiol.,
2006
Apr
, 290 (C1209-20).
440
Kaja S
et al.
Compensatory contribution of Cav2.3 channels to acetylcholine release at the neuromuscular junction of tottering mice.
J. Neurophysiol.,
2006
Apr
, 95 (2698-704).
441
Andreasen D
et al.
Coexpression of voltage-dependent calcium channels Cav1.2, 2.1a, and 2.1b in vascular myocytes.
Hypertension,
2006
Apr
, 47 (735-41).
442
Johnson R
et al.
Identification of the REST regulon reveals extensive transposable element-mediated binding site duplication.
Nucleic Acids Res.,
2006
, 34 (3862-77).
443
Dichgans M
et al.
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
Lancet,
2005 Jul 30-Aug 5
, 366 (371-7).
444
Chaudhuri D
et al.
Developmental activation of calmodulin-dependent facilitation of cerebellar P-type Ca2+ current.
J. Neurosci.,
2005
Sep
7
, 25 (8282-94).
445
Imbrici P
et al.
Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.
Neurology,
2005
Sep
27
, 65 (944-6).
446
Buraei Z
et al.
Slowed N-type calcium channel (CaV2.2) deactivation by the cyclin-dependent kinase inhibitor roscovitine.
Biophys. J.,
2005
Sep
, 89 (1681-91).
447
Khan NL
et al.
Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).
Mov. Disord.,
2005
Sep
, 20 (1115-9).
448
Pulst SM
et al.
Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.
Brain,
2005
Oct
, 128 (2297-303).
449
Shikano S
et al.
Genetic isolation of transport signals directing cell surface expression.
Nat. Cell Biol.,
2005
Oct
, 7 (985-92).
450
Spacey SD
et al.
Familial hemiplegic migraine presenting as recurrent encephalopathy in a Native Indian family.
Headache,
2005
Oct
, 45 (1244-9).
451
Takeshima T
et al.
[Genetic analysis of migraine headache: a review]
Nippon Rinsho,
2005
Oct
, 63 (1727-32).
452
Goldberg JA
et al.
Control of spontaneous firing patterns by the selective coupling of calcium currents to calcium-activated potassium currents in striatal cholinergic interneurons.
J. Neurosci.,
2005
Nov
2
, 25 (10230-8).
453
Fureman BE
et al.
Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy.
Neurobiol. Dis.,
2005
Nov
, 20 (227-32).
454
Andrés-Mateos E
et al.
Dynamic association of the Ca2+ channel alpha1A subunit and SNAP-25 in round or neurite-emitting chromaffin cells.
Eur. J. Neurosci.,
2005
Nov
, 22 (2187-98).
455
Tottene A
et al.
Specific kinetic alterations of human CaV2.1 calcium channels produced by mutation S218L causing familial hemiplegic migraine and delayed cerebral edema and coma after minor head trauma.
J. Biol. Chem.,
2005
May
6
, 280 (17678-86).
456
Jiang H
et al.
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
Chin. Med. J.,
2005
May
20
, 118 (837-43).
457
Juvonen V
et al.
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population.
Acta Neurol. Scand.,
2005
Mar
, 111 (154-62).
458
Yu GY
et al.
Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6.
Ann. Neurol.,
2005
Mar
, 57 (349-54).
459
Wan J
et al.
CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics.
Neurology,
2005
Jun
28
, 64 (2090-7).
460
Barrett CF
et al.
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel.
J. Biol. Chem.,
2005
Jun
24
, 280 (24064-71).
461
Strupp M
et al.
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia--a comment.
Brain,
2005
Jun
, 128 (E32; author reply E33).
463
Lautermilch NJ
et al.
Modulation of CaV2.1 channels by the neuronal calcium-binding protein visinin-like protein-2.
J. Neurosci.,
2005
Jul
27
, 25 (7062-70).
464
Few AP
et al.
Differential regulation of CaV2.1 channels by calcium-binding protein 1 and visinin-like protein-2 requires N-terminal myristoylation.
J. Neurosci.,
2005
Jul
27
, 25 (7071-80).
465
Eunson LH
et al.
New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.
Neurology,
2005
Jul
26
, 65 (308-10).
466
Kaunisto MA
et al.
Chromosome 19p13 loci in Finnish migraine with aura families.
Am. J. Med. Genet. B Neuropsychiatr. Genet.,
2005
Jan
5
, 132B (85-9).
467
Richman RW
et al.
RGS12 interacts with the SNARE-binding region of the Cav2.2 calcium channel.
J. Biol. Chem.,
2005
Jan
14
, 280 (1521-8).
468
Wan J
et al.
Nonconsensus intronic mutations cause episodic ataxia.
Ann. Neurol.,
2005
Jan
, 57 (131-5).
469
Yang SN
et al.
Beta-cell CaV channel regulation in physiology and pathophysiology.
Am. J. Physiol. Endocrinol. Metab.,
2005
Jan
, 288 (E16-28).
470
Harno H
et al.
Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study.
Neurology,
2005
Feb
8
, 64 (542-4).
471
Dichgans M
et al.
1H-MRS alterations in the cerebellum of patients with familial hemiplegic migraine type 1.
Neurology,
2005
Feb
22
, 64 (608-13).
472
Cao YQ
et al.
Effects of familial hemiplegic migraine type 1 mutations on neuronal P/Q-type Ca2+ channel activity and inhibitory synaptic transmission.
Proc. Natl. Acad. Sci. U.S.A.,
2005
Feb
15
, 102 (2590-5).
473
Hu Q
et al.
The carboxy-terminal tail region of human Cav2.1 (P/Q-type) channel is not an essential determinant for its subcellular localization in cultured neurones.
Genes Cells,
2005
Feb
, 10 (87-96).
474
Mössner R
et al.
A highly polymorphic poly-glutamine stretch in the potassium channel KCNN3 in migraine.
Headache,
2005
Feb
, 45 (132-6).
475
Spacey SD
et al.
Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.
Arch. Neurol.,
2005
Feb
, 62 (314-6).
476
Halling DB
et al.
Regulation of voltage-gated Ca2+ channels by calmodulin.
Sci. STKE,
2005
Dec
20
, 2005 (re15).
477
Tuteja D
et al.
Differential expression of small-conductance Ca2+-activated K+ channels SK1, SK2, and SK3 in mouse atrial and ventricular myocytes.
Am. J. Physiol. Heart Circ. Physiol.,
2005
Dec
, 289 (H2714-23).
478
Jen JC
et al.
Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.
Neurology,
2005
Aug
23
, 65 (529-34).
479
Herrmann A
et al.
[Episodic ataxias]
Tidsskr. Nor. Laegeforen.,
2005
Aug
11
, 125 (2005-7).
480
Wada T
et al.
Effects of calmodulin and Ca2+ channel blockers on omega-conotoxin GVIA binding to crude membranes from alpha1B subunit (Cav2.2) expressed BHK cells and mice brain lacking the alpha1B subunits.
Neurochem. Res.,
2005
Aug
, 30 (1045-54).
481
Weisz CJ
et al.
Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering.
J. Neurosci.,
2005
Apr
20
, 25 (4141-5).
482
Rucker JC
et al.
Internuclear ophthalmoparesis in episodic ataxia type 2.
Ann. N. Y. Acad. Sci.,
2005
Apr
, 1039 (571-4).
483
Stahl JS
et al.
Neural integrator function in murine CACNA1A mutants.
Ann. N. Y. Acad. Sci.,
2005
Apr
, 1039 (580-2).
484
Ying SH
et al.
Relative atrophy of the flocculus and ocular motor dysfunction in SCA2 and SCA6.
Ann. N. Y. Acad. Sci.,
2005
Apr
, 1039 (430-5).
486
Ichida S
et al.
Characteristics of omega-conotoxin GVI A and MVIIC binding to Cav 2.1 and Cav 2.2 channels captured by anti-Ca2+ channel peptide antibodies.
Neurochem. Res.,
2005
Apr
, 30 (457-66).
487
488
Kaja S
et al.
Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness.
Neuroscience,
2005
, 135 (81-95).
489
Layton MG
et al.
Cellular localization of voltage-gated calcium channels and synaptic vesicle-associated proteins in the guinea pig cochlea.
J. Mol. Neurosci.,
2005
, 27 (225-44).
490
Kors EE
et al.
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.
Neurology,
2004
Sep
28
, 63 (1136-7).
491
Kors EE
et al.
[From gene to disease; familial hemiplegic migraine as a result of mutations in a sodium-potassium pump gene]
,
2004
Sep
25
, 148 (1919-20).
492
Ivanov SV
et al.
Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene.
Am. J. Pathol.,
2004
Sep
, 165 (1007-18).
493
Rousset M
et al.
Ca2+-dependent interaction of BAPTA with phospholipids.
FEBS Lett.,
2004
Oct
8
, 576 (41-5).
494
Kim MJ
et al.
Immunohistochemical study of the distribution of neuronal voltage-gated calcium channels in the nNOS knock-out mouse cerebellum.
Neurosci. Lett.,
2004
Oct
7
, 369 (39-43).
495
Tedford HW
et al.
Scanning mutagenesis of omega-atracotoxin-Hv1a reveals a spatially restricted epitope that confers selective activity against insect calcium channels.
J. Biol. Chem.,
2004
Oct
15
, 279 (44133-40).
496
Mochizuki Y
et al.
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.
Acta Neuropathol.,
2004
Oct
, 108 (345-9).
497
Kors EE
et al.
Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2.
Neuropediatrics,
2004
Oct
, 35 (293-6).
498
Terwindt GM
et al.
Single-fiber EMG in familial hemiplegic migraine.
Neurology,
2004
Nov
23
, 63 (1942-3).
499
Scheuber A
et al.
Presynaptic Cav2.1 and Cav2.2 differentially influence release dynamics at hippocampal excitatory synapses.
J. Neurosci.,
2004
Nov
17
, 24 (10402-9).
500
Matsuyama Z
et al.
Polyglutamine repeats of spinocerebellar ataxia 6 impair the cell-death-preventing effect of CaV2.1 Ca2+ channel--loss-of-function cellular model of SCA6.
Neurobiol. Dis.,
2004
Nov
, 17 (198-204).
501
Luvisetto S
et al.
Modal gating of human CaV2.1 (P/Q-type) calcium channels: I. The slow and the fast gating modes and their modulation by beta subunits.
J. Gen. Physiol.,
2004
Nov
, 124 (445-61).
502
Fellin T
et al.
Modal gating of human CaV2.1 (P/Q-type) calcium channels: II. the b mode and reversible uncoupling of inactivation.
J. Gen. Physiol.,
2004
Nov
, 124 (463-74).
503
Strupp M
et al.
Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine.
Neurology,
2004
May
11
, 62 (1623-5).
504
Stahl JS
Eye movements of the murine P/Q calcium channel mutant rocker, and the impact of aging.
J. Neurophysiol.,
2004
May
, 91 (2066-78).
505
Tsai HF
et al.
Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.
Acta Neurol. Scand.,
2004
May
, 109 (355-60).
506
Brusco A
et al.
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Arch. Neurol.,
2004
May
, 61 (727-33).
507
Van Den Maagdenberg AM
et al.
A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression.
Neuron,
2004
Mar
4
, 41 (701-10).
508
Jönsson EG
et al.
Monoamine related functional gene variants and relationships to monoamine metabolite concentrations in CSF of healthy volunteers.
BMC Psychiatry,
2004
Mar
4
, 4 (4).
509
Terasawa H
et al.
A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in western Japan.
Neurosci. Lett.,
2004
Mar
25
, 358 (107-10).
510
Verbeek DS
et al.
Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.
Eur. J. Hum. Genet.,
2004
Jun
, 12 (441-6).
511
Kors EE
et al.
Recent findings in headache genetics.
Curr. Opin. Neurol.,
2004
Jun
, 17 (283-8).
512
Jen JC
et al.
No mutations in CACNA1A and ATP1A2 in probands with common types of migraine.
Arch. Neurol.,
2004
Jun
, 61 (926-8).
513
Fumal A
et al.
[Genetics of migraines: from ionic channels to single nucleotide polymorphisms?]
,
2004
Jun
, 59 (367-77).
514
Le Fort D
et al.
Elicited repetitive daily blindness: a new familial disorder related to migraine and epilepsy.
Neurology,
2004
Jul
27
, 63 (348-50).
515
Vogensen SB
et al.
A stereochemical anomaly: the cyclised (R)-AMPA analogue (R)-3-hydroxy-4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridine-5-carboxylic acid [(R)-5-HPCA] resembles (S)-AMPA at glutamate receptors.
Org. Biomol. Chem.,
2004
Jan
21
, 2 (206-13).
516
Jen J
et al.
Clinical spectrum of episodic ataxia type 2.
Neurology,
2004
Jan
13
, 62 (17-22).
517
Estevez M
et al.
The voltage-gated calcium channel UNC-2 is involved in stress-mediated regulation of tryptophan hydroxylase.
J. Neurochem.,
2004
Jan
, 88 (102-13).
518
Nakanishi I
et al.
[A case of spinocerebellar ataxia 6 accompanied with schizophrenia]
No To Shinkei,
2004
Jan
, 56 (49-52).
519
Taverna E
et al.
Role of lipid microdomains in P/Q-type calcium channel (Cav2.1) clustering and function in presynaptic membranes.
J. Biol. Chem.,
2004
Feb
13
, 279 (5127-34).
520
Kaunisto MA
et al.
Novel splice site CACNA1A mutation causing episodic ataxia type 2.
Neurogenetics,
2004
Feb
, 5 (69-73).
521
Estevez M
et al.
Update on the genetics of migraine.
Hum. Genet.,
2004
Feb
, 114 (225-35).
522
Scamps F
et al.
Activation of P-type calcium channel regulates a unique thapsigargin-sensitive calcium pool in embryonic motoneurons.
Eur. J. Neurosci.,
2004
Feb
, 19 (977-82).
523
Kinoshita-Kawada M
et al.
A Purkinje cell specific GoLoco domain protein, L7/Pcp-2, modulates receptor-mediated inhibition of Cav2.1 Ca2+ channels in a dose-dependent manner.
Brain Res. Mol. Brain Res.,
2004
Dec
6
, 132 (73-86).
524
Müllner C
et al.
Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects.
J. Biol. Chem.,
2004
Dec
10
, 279 (51844-50).
525
Lee H
et al.
A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Hum. Mutat.,
2004
Dec
, 24 (536).
526
Imbrici P
et al.
Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.
Brain,
2004
Dec
, 127 (2682-92).
527
Cao YQ
et al.
Presynaptic Ca2+ channels compete for channel type-preferring slots in altered neurotransmission arising from Ca2+ channelopathy.
Neuron,
2004
Aug
5
, 43 (387-400).
528
Spacey SD
et al.
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Ann. Neurol.,
2004
Aug
, 56 (213-20).
529
Ebersberger A
et al.
Effects of N-, P/Q- and L-type calcium channel blockers on nociceptive neurones of the trigeminal nucleus with input from the dura.
Cephalalgia,
2004
Apr
, 24 (250-61).
530
Beauvais K
et al.
New CACNA1A gene mutation in a case of familial hemiplegic migraine with status epilepticus.
Eur. Neurol.,
2004
, 52 (58-61).
531
Takahashi H
et al.
A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6.
J. Hum. Genet.,
2004
, 49 (256-64).
533
Lau FC
et al.
Postnatal apoptosis in cerebellar granule cells of homozygous leaner (tg1a/tg1a) mice.
,
2004
, 6 (267-80).
535
536
Liang H
et al.
Unified mechanisms of Ca2+ regulation across the Ca2+ channel family.
Neuron,
2003
Sep
11
, 39 (951-60).
537
Plomp JJ
et al.
Transmitter release deficits at the neuromuscular synapse of mice with mutations in the Cav2.1 (alpha1A) subunit of the P/Q-type Ca2+ channel.
Ann. N. Y. Acad. Sci.,
2003
Sep
, 998 (29-32).
538
Chapman KM
et al.
Pseudomigraine with lymphocytic pleocytosis: a calcium channelopathy? Clinical description of 10 cases and genetic analysis of the familial hemiplegic migraine gene CACNA1A.
Headache,
2003
Sep
, 43 (892-5).
539
Vanmolkot KR
et al.
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.
Ann. Neurol.,
2003
Sep
, 54 (360-6).
540
Maselli RA
et al.
Effect of inherited abnormalities of calcium regulation on human neuromuscular transmission.
Ann. N. Y. Acad. Sci.,
2003
Sep
, 998 (18-28).
541
Tomaszewska-Zaremba D
et al.
The role of GabaA receptors in the neural systems of the ventromedial hypothalamus-nucleus infundibular region in the control of GnRH release in ewes during follicular phase.
Exp. Clin. Endocrinol. Diabetes,
2003
Sep
, 111 (335-40).
542
Cader ZM
et al.
Significant linkage to migraine with aura on chromosome 11q24.
Hum. Mol. Genet.,
2003
Oct
1
, 12 (2511-7).
543
Hashimoto T
et al.
Periodic alternating nystagmus and rebound nystagmus in spinocerebellar ataxia type 6.
Mov. Disord.,
2003
Oct
, 18 (1201-4).
544
Akerman S
et al.
Voltage-dependent calcium channels are involved in neurogenic dural vasodilatation via a presynaptic transmitter release mechanism.
Br. J. Pharmacol.,
2003
Oct
, 140 (558-66).
545
Sadtler S
et al.
A basic cluster determines topology of the cytoplasmic M3-M4 loop of the glycine receptor alpha1 subunit.
J. Biol. Chem.,
2003
May
9
, 278 (16782-90).
546
Tomaszewska-Zaremba D
et al.
The role of GABA(A) receptors in the neural systems of the medial preoptic area in the control of GnRH release in ewes during follicular phase.
Anim. Reprod. Sci.,
2003
May
15
, 77 (71-83).
547
Butteriss DJ
et al.
Serial MRI in a case of familial hemiplegic migraine.
,
2003
May
, 45 (300-3).
548
Kors EE
et al.
Expanding the phenotypic spectrum of the CACNA1A gene T666M mutation: a description of 5 families with familial hemiplegic migraine.
Arch. Neurol.,
2003
May
, 60 (684-8).
549
Jardim L
et al.
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado-Joseph disease (SCA3) phenotype.
Acta Neurol. Scand.,
2003
Mar
, 107 (211-4).
550
Wieser T
et al.
Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: implications for genetic testing.
Clin. Chem. Lab. Med.,
2003
Mar
, 41 (272-5).
551
Ambrosini A
et al.
Acetazolamide acts on neuromuscular transmission abnormalities found in some migraineurs.
Cephalalgia,
2003
Mar
, 23 (75-8).
552
Izumi Y
et al.
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
Am. J. Hum. Genet.,
2003
Mar
, 72 (704-9).
553
Spafford JD
et al.
Expression and modulation of an invertebrate presynaptic calcium channel alpha1 subunit homolog.
J. Biol. Chem.,
2003
Jun
6
, 278 (21178-87).
554
Matsuyama Z
et al.
A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family.
J. Neurol. Sci.,
2003
Jun
15
, 210 (91-3).
555
Agler HL
et al.
Custom distinctions in the interaction of G-protein beta subunits with N-type (CaV2.2) versus P/Q-type (CaV2.1) calcium channels.
J. Gen. Physiol.,
2003
Jun
, 121 (495-510).
556
Kitano J
et al.
Direct interaction and functional coupling between metabotropic glutamate receptor subtype 1 and voltage-sensitive Cav2.1 Ca2+ channel.
J. Biol. Chem.,
2003
Jul
4
, 278 (25101-8).
557
Matsumura R
et al.
Frequency of spinocerebellar ataxia mutations in the Kinki district of Japan.
Acta Neurol. Scand.,
2003
Jan
, 107 (38-41).
558
Hirose H
et al.
A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene.
Int. J. Mol. Med.,
2003
Feb
, 11 (187-9).
559
De Fusco M
et al.
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.
Nat. Genet.,
2003
Feb
, 33 (192-6).
560
Lee A
et al.
Molecular determinants of Ca(2+)/calmodulin-dependent regulation of Ca(v)2.1 channels.
Proc. Natl. Acad. Sci. U.S.A.,
2003
Dec
23
, 100 (16059-64).
561
Maselli RA
et al.
Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2.
Neurology,
2003
Dec
23
, 61 (1743-8).
562
Subramony SH
et al.
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
Ann. Neurol.,
2003
Dec
, 54 (725-31).
563
Kubodera T
et al.
Proteolytic cleavage and cellular toxicity of the human alpha1A calcium channel in spinocerebellar ataxia type 6.
Neurosci. Lett.,
2003
Apr
24
, 341 (74-8).
564
Mantuano E
et al.
Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.
Cytogenet. Genome Res.,
2003
, 100 (147-53).
565
Zhou J
et al.
Phosphorylation and putative ER retention signals are required for protein kinase A-mediated potentiation of cardiac sodium current.
Circ. Res.,
2002
Sep
20
, 91 (540-6).
566
Gallo A
et al.
Micro-processing events in mRNAs identified by DHPLC analysis.
Nucleic Acids Res.,
2002
Sep
15
, 30 (3945-53).
568
Noble-Topham SE
et al.
Migraine with aura is not linked to the FHM gene CACNA1A or the chromosomal region, 19p13.
Neurology,
2002
Oct
8
, 59 (1099-101).
569
Tottene A
et al.
Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons.
Proc. Natl. Acad. Sci. U.S.A.,
2002
Oct
1
, 99 (13284-9).
570
Tomaszewska-Zaremba D
et al.
The Involvement of GABAA receptors in the control of GnRH and beta-endorphin release, and catecholaminergic activity in the preoptic area in anestrous ewes.
Exp. Clin. Endocrinol. Diabetes,
2002
Oct
, 110 (336-42).
571
Helton TD
et al.
Alternative splicing of a beta4 subunit proline-rich motif regulates voltage-dependent gating and toxin block of Cav2.1 Ca2+ channels.
J. Neurosci.,
2002
Nov
1
, 22 (9331-9).
572
van den Maagdenberg AM
et al.
Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.
J. Neurol.,
2002
Nov
, 249 (1515-9).
573
Taschenberger G
et al.
Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
J. Biol. Chem.,
2002
May
10
, 277 (17139-46).
574
Takahashi T
et al.
Japanese cases of familial hemiplegic migraine with cerebellar ataxia carrying a T666M mutation in the CACNA1A gene.
J. Neurol. Neurosurg. Psychiatr.,
2002
May
, 72 (676-7).
575
Dorschner MO
et al.
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
,
2002
May
, 4 (108-13).
576
Fukutake T
et al.
A patient homozygous for the SCA6 gene with retinitis pigmentosa.
Clin. Genet.,
2002
May
, 61 (375-9).
577
Geib S
et al.
The interaction between the I-II loop and the III-IV loop of Cav2.1 contributes to voltage-dependent inactivation in a beta -dependent manner.
J. Biol. Chem.,
2002
Mar
22
, 277 (10003-13).
578
Wappl E
et al.
Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.
J. Biol. Chem.,
2002
Mar
1
, 277 (6960-6).
579
Tsunemi T
et al.
Novel Cav2.1 splice variants isolated from Purkinje cells do not generate P-type Ca2+ current.
J. Biol. Chem.,
2002
Mar
1
, 277 (7214-21).
580
Kors EE
et al.
Calcium channel mutations and migraine.
Curr. Opin. Neurol.,
2002
Jun
, 15 (311-6).
581
Terwindt G
et al.
Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.
Arch. Neurol.,
2002
Jun
, 59 (1016-8).
582
Maruyama H
et al.
Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.
Am. J. Med. Genet.,
2002
Jul
8
, 114 (578-83).
583
Giffin NJ
et al.
Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation.
,
2002
Jul
, 44 (490-3).
584
Chioza B
et al.
CACNA1A and P/Q-type calcium channels in epilepsy.
Lancet,
2002
Jan
19
, 359 (258).
585
Wada T
et al.
Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.
Pediatr. Neurol.,
2002
Jan
, 26 (47-50).
586
Baloh RW
Episodic vertigo: central nervous system causes.
Curr. Opin. Neurol.,
2002
Feb
, 15 (17-21).
587
Pietrobon D
Calcium channels and channelopathies of the central nervous system.
Mol. Neurobiol.,
2002
Feb
, 25 (31-50).
588
Vahedi K
et al.
Efficacy and tolerability of acetazolamide in migraine prophylaxis: a randomised placebo-controlled trial.
J. Neurol.,
2002
Feb
, 249 (206-11).
589
Gäddnäs H
et al.
Pineal melatonin and brain transmitter monoamines in CBA mice during chronic oral nicotine administration.
Brain Res.,
2002
Dec
6
, 957 (76-83).
590
Arikkath J
et al.
Molecular characterization of a two-domain form of the neuronal voltage-gated P/Q-type calcium channel alpha(1)2.1 subunit.
FEBS Lett.,
2002
Dec
18
, 532 (300-8).
591
Chioza B
et al.
Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy.
Eur. J. Hum. Genet.,
2002
Dec
, 10 (857-64).
592
Zamponi GW
et al.
Modulating modulation: crosstalk between regulatory pathways of presynaptic calcium channels.
Mol. Interv.,
2002
Dec
, 2 (476-8).
593
Tomaszewska-Zaremba D
et al.
The role of GABA(A) receptors in the neural systems of the ventromedial-infundibular region of the hypothalamus in the control of gonadotropin release during the luteal phase in ewes.
J. Physiol. Pharmacol.,
2002
Dec
, 53 (835-45).
594
Zhang Y
et al.
Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons.
J. Neurosci.,
2002
Aug
1
, 22 (6362-71).
595
Kinoshita M
[Binding of G alpha o N-terminus is responsible for the voltage-resistant inhibition of alpha 1A (P/Q-type, Cav2.1) Ca2+ channels]
Yakugaku Zasshi,
2002
Aug
, 122 (565-72).
596
Baloh RW
et al.
Genetics of familial episodic vertigo and ataxia.
Ann. N. Y. Acad. Sci.,
2002
Apr
, 956 (338-45).
597
De Laet A
et al.
Immunohistochemical localization of voltage-activated calcium channels in the rat oesophagus.
Neurogastroenterol. Motil.,
2002
Apr
, 14 (173-81).
598
Sander T
et al.
Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy.
Epilepsy Res.,
2002
Apr
, 49 (173-7).
599
Brugnoni R
et al.
Is the CACNA1A gene involved in familial migraine with aura?
Neurol. Sci.,
2002
Apr
, 23 (1-5).
600
Cevoli S
et al.
Familial hemiplegic migraine: clinical features and probable linkage to chromosome 1 in an Italian family.
Neurol. Sci.,
2002
Apr
, 23 (7-10).
601
Ferrari MD
et al.
The genetics of migraine: implication for treatment approaches.
J. Neural Transm. Suppl.,
2002
, (111-27).
602
Frontali M
Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?
Brain Res. Bull.,
2001 Oct-Nov 1
, 56 (227-31).
603
Carrera P
et al.
Familial hemiplegic migraine: a ion channel disorder.
Brain Res. Bull.,
2001 Oct-Nov 1
, 56 (239-41).
604
Jouvenceau A
et al.
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.
Lancet,
2001
Sep
8
, 358 (801-7).
605
Stange M
et al.
Two domains in dihydropyridine receptor activate the skeletal muscle Ca(2+) release channel.
Biophys. J.,
2001
Sep
, 81 (1419-29).
606
Plomp JJ
et al.
Mutant P/Q-type calcium channel electrophysiology and migraine.
,
2001
Sep
, 2 (1250-60).
607
Ambrosini A
et al.
Neuromuscular transmission in migraine patients with prolonged aura.
,
2001
Sep
, 101 (166-70).
608
Tomaszewska-Zaremba D
et al.
The involvement of GABA(A) receptors in the control of GnRH and beta-endorphin release, and catecholaminergic activity in the ventromedial-infundibular region of hypothalamus in anestrous ewes.
J. Physiol. Pharmacol.,
2001
Sep
, 52 (489-500).
609
Mariotti C
et al.
Pathogenic effect of an intermediate-size SCA-6 allele (CAG)(19) in a homozygous patient.
Neurology,
2001
Oct
23
, 57 (1502-4).
610
Østergaard E
et al.
[Molecular genetic findings in migraine]
Ugeskr. Laeg.,
2001
Nov
5
, 163 (6260-5).
611
Jen J
et al.
Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
Neurology,
2001
Nov
27
, 57 (1843-8).
612
Komeichi K
et al.
Twenty CAG repeats are sufficient to cause the SCA6 phenotype.
J. Med. Genet.,
2001
Nov
, 38 (E38).
613
Chioza B
et al.
Association between the alpha(1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy.
Neurology,
2001
May
8
, 56 (1245-6).
614
Fletcher CF
et al.
Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity.
FASEB J.,
2001
May
, 15 (1288-90).
615
Yabe I
et al.
Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese.
J. Med. Genet.,
2001
May
, 38 (328-33).
616
Mori M
et al.
A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan.
,
2001
May
, 20 (144-9).
617
Stephens GJ
et al.
The Cav2.1/alpha1A (P/Q-type) voltage-dependent calcium channel mediates inhibitory neurotransmission onto mouse cerebellar Purkinje cells.
Eur. J. Neurosci.,
2001
May
, 13 (1902-12).
618
Guida S
et al.
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.
Am. J. Hum. Genet.,
2001
Mar
, 68 (759-64).
619
Julien J
et al.
Sporadic late onset paroxysmal cerebellar ataxia in four unrelated patients: a new disease?
J. Neurol.,
2001
Mar
, 248 (209-14).
620
Gomez CM
Polyglutamine aggregates in SCA6 Purkinje cells: a tail of two toxicities.
Neurology,
2001
Jun
26
, 56 (1618-9).
621
Kors EE
et al.
Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.
Ann. Neurol.,
2001
Jun
, 49 (753-60).
622
Ducros A
et al.
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
N. Engl. J. Med.,
2001
Jul
5
, 345 (17-24).
623
Joux N
et al.
High voltage-activated Ca2+ currents in rat supraoptic neurones: biophysical properties and expression of the various channel alpha1 subunits.
J. Neuroendocrinol.,
2001
Jul
, 13 (638-49).
624
Ophoff RA
et al.
The impact of pharmacogenetics for migraine.
Eur. J. Pharmacol.,
2001
Feb
9
, 413 (1-10).
625
Cartier EA
et al.
Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
Proc. Natl. Acad. Sci. U.S.A.,
2001
Feb
27
, 98 (2882-7).
626
Zwingman TA
et al.
Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a.
J. Neurosci.,
2001
Feb
15
, 21 (1169-78).
627
Kors EE
et al.
[From gene to disease; from CACNA1A to migraine]
,
2001
Feb
10
, 145 (266-7).
628
Kullmann DM
et al.
The inherited episodic ataxias: how well do we understand the disease mechanisms?
,
2001
Feb
, 7 (80-8).
629
Denier C
et al.
Missense CACNA1A mutation causing episodic ataxia type 2.
Arch. Neurol.,
2001
Feb
, 58 (292-5).
630
Lea RA
et al.
Investigation of the CACNA1A gene as a candidate for typical migraine susceptibility.
Am. J. Med. Genet.,
2001
Dec
8
, 105 (707-12).
631
Kim JY
et al.
Molecular analysis of Spinocerebellar ataxias in Koreans: frequencies and reference ranges of SCA1, SCA2, SCA3, SCA6, and SCA7.
Mol. Cells,
2001
Dec
31
, 12 (336-41).
632
Piedras-Rentería ES
et al.
Increased expression of alpha 1A Ca2+ channel currents arising from expanded trinucleotide repeats in spinocerebellar ataxia type 6.
J. Neurosci.,
2001
Dec
1
, 21 (9185-93).
633
Russell MB
No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache.
Cephalalgia,
2001
Dec
, 21 (939).
634
Wiest G
et al.
Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A.
Brain,
2001
Dec
, 124 (2407-16).
635
Koh SH
et al.
Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.
J. Korean Med. Sci.,
2001
Dec
, 16 (809-13).
636
Sjöstrand C
et al.
CACNA1A gene polymorphisms in cluster headache.
Cephalalgia,
2001
Dec
, 21 (953-8).
637
Haan J
et al.
No involvement of the calcium channel gene (CACNA1A) in a family with cluster headache.
Cephalalgia,
2001
Dec
, 21 (959-62).
638
Terwindt GM
et al.
Involvement of the CACNA1A gene containing region on 19p13 in migraine with and without aura.
Neurology,
2001
Apr
24
, 56 (1028-32).
639
Scoggan KA
et al.
Identification of two novel mutations in the CACNA1A gene responsible for episodic ataxia type 2.
J. Med. Genet.,
2001
Apr
, 38 (249-53).
640
Fernandez M
et al.
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.
Ann. Neurol.,
2001
Apr
, 49 (486-92).
641
Pigullo S
et al.
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.
,
2001
, 108 (297-304).
642
Restituito S
et al.
The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes.
J. Neurosci.,
2000
Sep
1
, 20 (6394-403).
643
Razavi M
et al.
Hemiplegic migraine induced by exertion.
Arch. Neurol.,
2000
Sep
, 57 (1363-5).
646
Lea RA
et al.
Evidence for allelic association of the dopamine beta-hydroxylase gene (DBH) with susceptibility to typical migraine.
Neurogenetics,
2000
Sep
, 3 (35-40).
647
Jen J
Familial Episodic Ataxias and Related Ion Channel Disorders.
,
2000
Sep
, 2 (429-431).
648
Vahedi K
et al.
CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.
Neurology,
2000
Oct
10
, 55 (1040-2).
649
Haan J
et al.
Alternating hemiplegia of childhood: no mutations in the familial hemiplegic migraine CACNA1A gene.
Cephalalgia,
2000
Oct
, 20 (696-700).
650
Münchau A
et al.
A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study.
J. Neurol. Neurosurg. Psychiatr.,
2000
May
, 68 (609-14).
651
Plomp JJ
et al.
Abnormal transmitter release at neuromuscular junctions of mice carrying the tottering alpha(1A) Ca(2+) channel mutation.
Brain,
2000
Mar
, 123 Pt 3 (463-71).
652
653
Klockgether T
et al.
The molecular biology of the autosomal-dominant cerebellar ataxias.
Mov. Disord.,
2000
Jul
, 15 (604-12).
654
Margeta-Mitrovic M
et al.
A trafficking checkpoint controls GABA(B) receptor heterodimerization.
Neuron,
2000
Jul
, 27 (97-106).
655
Kato T
et al.
Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes.
Clin. Genet.,
2000
Jul
, 58 (69-73).
656
Hough E
et al.
Identification of molecular regions responsible for the membrane trafficking of Kir6.2.
Pflugers Arch.,
2000
Jul
, 440 (481-7).
657
Trettel F
et al.
A fine physical map of the CACNA1A gene region on 19p13.1-p13.2 chromosome.
Gene,
2000
Jan
4
, 241 (45-50).
658
Chabriat H
et al.
Decreased hemispheric water mobility in hemiplegic migraine related to mutation of CACNA1A gene.
Neurology,
2000
Jan
25
, 54 (510-2).
659
Burgess DL
et al.
Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13.
Epilepsia,
2000
Jan
, 41 (24-7).
660
Schöls L
et al.
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
Hum. Genet.,
2000
Aug
, 107 (132-7).
661
Tang B
et al.
Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
Arch. Neurol.,
2000
Apr
, 57 (540-4).
662
Sugawara M
et al.
Pontine atrophy in spinocerebellar ataxia type 6.
Eur. Neurol.,
2000
, 43 (17-22).
663
Tashiro H
et al.
An autopsy case of spinocerebellar ataxia type 6 with mental symptoms of schizophrenia and dementia.
Clin. Neuropathol.,
1999 Jul-Aug
, 18 (198-204).
664
Burgess DL
et al.
Single gene defects in mice: the role of voltage-dependent calcium channels in absence models.
Epilepsy Res.,
1999
Sep
, 36 (111-22).
665
Friend KL
et al.
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.
Hum. Genet.,
1999
Sep
, 105 (261-5).
666
Zhu X
et al.
Conversion of an inactive cardiac dihydropyridine receptor II-III loop segment into forms that activate skeletal ryanodine receptors.
FEBS Lett.,
1999
May
7
, 450 (221-6).
667
Caddick SJ
et al.
Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami.
J. Neurophysiol.,
1999
May
, 81 (2066-74).
668
Hans M
et al.
Functional consequences of mutations in the human alpha1A calcium channel subunit linked to familial hemiplegic migraine.
J. Neurosci.,
1999
Mar
1
, 19 (1610-9).
669
Zerangue N
et al.
A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels.
Neuron,
1999
Mar
, 22 (537-48).
670
Frontali M
et al.
CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.
Philos. Trans. R. Soc. Lond., B, Biol. Sci.,
1999
Jun
29
, 354 (1089-94).
671
Matsuyama Z
et al.
Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6.
J. Neurosci.,
1999
Jun
15
, 19 (RC14).
672
Jen J
Calcium channelopathies in the central nervous system.
Curr. Opin. Neurobiol.,
1999
Jun
, 9 (274-80).
673
Breen G
et al.
Association study of the CACN1A4 (SCA6) triplet repeat and schizophrenia.
Psychiatr. Genet.,
1999
Jun
, 9 (111-3).
674
Pujana MA
et al.
Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.
Hum. Genet.,
1999
Jun
, 104 (516-22).
675
Tournier-Lasserve E
CACNA1A mutations: hemiplegic migraine, episodic ataxia type 2, and the others.
Neurology,
1999
Jul
13
, 53 (3-4).
676
Battistini S
et al.
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.
Neurology,
1999
Jul
13
, 53 (38-43).
677
Jen J
et al.
A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.
Neurology,
1999
Jul
13
, 53 (34-7).
678
Carrera P
et al.
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
Neurology,
1999
Jul
13
, 53 (26-33).
679
Ishikawa K
et al.
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
Hum. Mol. Genet.,
1999
Jul
, 8 (1185-93).
680
Ducros A
et al.
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
Am. J. Hum. Genet.,
1999
Jan
, 64 (89-98).
681
Arpa J
et al.
Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6.
Acta Neurol. Scand.,
1999
Jan
, 99 (43-7).
682
García-Planells J
et al.
Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia.
J. Med. Genet.,
1999
Feb
, 36 (148-51).
683
Izumi Y
et al.
[A sporadic case of spinocerebellar ataxia 6 (SCA 6) with large CAG expansion of the CACNL1A4 gene]
No To Shinkei,
1999
Feb
, 51 (167-70).
684
Black JL
et al.
Immunogenicity of P/Q-type calcium channel in small cell lung cancer: investigation of alpha1 subunit polyglutamine expansion.
Tissue Antigens,
1999
Dec
, 54 (592-6).
685
Ishikawa K
et al.
[Clinical, neuropathological and genetic characteristics of spinocerebellar ataxia type 6 (SCA6)]
Nippon Rinsho,
1999
Apr
, 57 (880-5).
686
Yamazaki K
et al.
Locations of human genes for alpha 1A, alpha 1B, and alpha 1E calcium channels determined by radiation hybrid mapping.
J. Hered.,
1998 May-Jun
, 89 (269-71).
687
Terwindt GM
et al.
Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.
Eur. J. Hum. Genet.,
1998 Jul-Aug
, 6 (297-307).
688
Thomsen LL
et al.
[Familial hemiplegic migraine]
Ugeskr. Laeg.,
1998
Sep
7
, 160 (5325-9).
689
Kim JS
et al.
Familial migraine with vertigo: no mutations found in CACNA1A.
Am. J. Med. Genet.,
1998
Sep
1
, 79 (148-51).
690
Klockgether T
et al.
Genes involved in hereditary ataxias.
Trends Neurosci.,
1998
Sep
, 21 (413-8).
691
Harada H
et al.
Downbeat nystagmus in two siblings with spinocerebellar ataxia type 6 (SCA 6).
J. Neurol. Sci.,
1998
Oct
8
, 160 (161-3).
692
Takano H
et al.
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
Am. J. Hum. Genet.,
1998
Oct
, 63 (1060-6).
693
Yue Q
et al.
De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.
Am. J. Med. Genet.,
1998
May
26
, 77 (298-301).
694
Nyholt DR
et al.
Familial typical migraine: linkage to chromosome 19p13 and evidence for genetic heterogeneity.
Neurology,
1998
May
, 50 (1428-32).
695
Namekawa M
et al.
[A sporadic case of episodic ataxia with nystagmus (EA-2)]
Rinsho Shinkeigaku,
1998
May
, 38 (446-9).
696
Kraus RL
et al.
Familial hemiplegic migraine mutations change alpha1A Ca2+ channel kinetics.
J. Biol. Chem.,
1998
Mar
6
, 273 (5586-90).
697
Silveira I
et al.
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.
Am. J. Med. Genet.,
1998
Mar
28
, 81 (134-8).
698
Takiyama Y
et al.
A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.
J. Neurol. Sci.,
1998
Jun
30
, 158 (141-7).
699
Gardner K
et al.
Current status of genetic discoveries in migraine: familial hemiplegic migraine and beyond.
Curr. Opin. Neurol.,
1998
Jun
, 11 (211-6).
700
Yabe I
et al.
[Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6)]
Rinsho Shinkeigaku,
1998
Jun
, 38 (489-94).
701
Schöls L
et al.
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.
J. Neurol. Neurosurg. Psychiatr.,
1998
Jan
, 64 (67-73).
702
Sasaki H
et al.
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6).
Acta Neuropathol.,
1998
Feb
, 95 (199-204).
703
Nagai Y
et al.
Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6.
J. Neurol. Sci.,
1998
Apr
15
, 157 (52-9).
704
Satoh JI
et al.
Spinocerebellar ataxia type 6: MRI of three Japanese patients.
,
1998
Apr
, 40 (222-7).
705
Terwindt GM
et al.
Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group.
Neurology,
1998
Apr
, 50 (1105-10).
706
Yabe I
et al.
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
J. Neurol. Sci.,
1998
, 156 (89-95).
707
Lory P
et al.
[Physiopathology of calcium channels: identification of calcium channelopathies]
C. R. Seances Soc. Biol. Fil.,
1998
, 192 (137-47).
708
Brandt T
et al.
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
Audiol. Neurootol.,
1997 Nov-Dec
, 2 (373-83).
709
Zharavin VA
et al.
[The rational evolution of scorpion toxins]
Bioorg. Khim.,
1997
Sep
, 23 (710-20).
710
Jodice C
et al.
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
Hum. Mol. Genet.,
1997
Oct
, 6 (1973-8).
711
Yue Q
et al.
Progressive ataxia due to a missense mutation in a calcium-channel gene.
Am. J. Hum. Genet.,
1997
Nov
, 61 (1078-87).
712
Zoghbi HY
CAG repeats in SCA6. Anticipating new clues.
Neurology,
1997
Nov
, 49 (1196-9).
713
Lu C
et al.
Modulation of hybrid bass retinal gap junctional channel gating by nitric oxide.
J. Physiol. (Lond.),
1997
Mar
15
, 499 ( Pt 3) (689-99).
714
Zhuchenko O
et al.
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
Nat. Genet.,
1997
Jan
, 15 (62-9).
715
Doyle J
et al.
Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice.
Mamm. Genome,
1997
Feb
, 8 (113-20).
716
Ikeuchi T
et al.
Spinocerebellar ataxia type 6: CAG repeat expansion in alpha1A voltage-dependent calcium channel gene and clinical variations in Japanese population.
Ann. Neurol.,
1997
Dec
, 42 (879-84).
717
Leggo J
et al.
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
J. Med. Genet.,
1997
Dec
, 34 (982-5).
718
Ophoff RA
et al.
Familial hemiplegic migraine: involvement of a calcium neuronal channel.
,
1997
Dec
, 12 Suppl 5 (31-7).
719
Matsuyama Z
et al.
Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6).
Hum. Mol. Genet.,
1997
Aug
, 6 (1283-7).
720
Riess O
et al.
SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.
Hum. Mol. Genet.,
1997
Aug
, 6 (1289-93).
721
Ishikawa K
et al.
Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
Am. J. Hum. Genet.,
1997
Aug
, 61 (336-46).
722
Terwindt GM
et al.
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.
Epilepsia,
1997
Aug
, 38 (915-21).
723
Vargas ML
et al.
Neurochemical activity of noradrenergic neurons and pituitary-adrenal response after naloxone-induced withdrawal: the role of calcium channels.
Naunyn Schmiedebergs Arch. Pharmacol.,
1997
Apr
, 355 (501-6).
724
Ophoff RA
et al.
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.
Cell,
1996
Nov
1
, 87 (543-52).
725
Wahl P
et al.
Different characteristics of AMPA receptor agonists acting at AMPA receptors expressed in Xenopus oocytes.
Eur. J. Pharmacol.,
1996
Jul
18
, 308 (211-8).
726
Suzuki T
et al.
Diazepam pretreatment suppresses morphine withdrawal signs in the mouse.
Life Sci.,
1996
, 58 (349-57).
727
Diriong S
et al.
Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.
Genomics,
1995
Dec
10
, 30 (605-9).
728
Gallagher DS
et al.
Syntenic assignments of visual transduction genes in cattle.
Genomics,
1992
Nov
, 14 (699-706).
729
Kalin NH
et al.
Effects of beta-carboline on fear-related behavioral and neurohormonal responses in infant rhesus monkeys.
Biol. Psychiatry,
1992
May
15
, 31 (1008-19).
730
Gorter JA
et al.
Chronic neonatal NMDA receptor blockade with MK-801 alters monoamine metabolism in the adult rat.
Neurosci. Lett.,
1992
Mar
16
, 137 (97-100).
731
Madsen U
et al.
NMDA receptor agonists derived from ibotenic acid. Preparation, neuroexcitation and neurotoxicity.
Eur. J. Pharmacol.,
1990
Dec
15
, 189 (381-91).
732
Krogsgaard-Larsen P
et al.
Synthesis and structure-activity studies on excitatory amino acids structurally related to ibotenic acid.
J. Med. Chem.,
1985
May
, 28 (673-9).
733
Charney DS
et al.
Noradrenergic function and the mechanism of action of antianxiety treatment. I. The effect of long-term alprazolam treatment.
Arch. Gen. Psychiatry,
1985
May
, 42 (458-67).
734
Ida Y
et al.
Attenuating effect of diazepam on stress-induced increases in noradrenaline turnover in specific brain regions of rats: antagonism by Ro 15-1788.
Life Sci.,
1985
Dec
30
, 37 (2491-8).
735
Suzdak PD
et al.
Differential coupling of GABA-A and GABA-B receptors to the noradrenergic system.
J. Neural Transm.,
1985
, 62 (77-89).
736
Krogsgaard-Larsen P
et al.
Ibotenic acid analogues. Synthesis and biological and in vitro activity of conformationally restricted agonists at central excitatory amino acid receptors.
J. Med. Chem.,
1984
May
, 27 (585-91).
737
Ostrow DG
et al.
Ion transport and adrenergic function in major affective disorder.
Biol. Psychiatry,
1982
Sep
, 17 (971-80).