Channelpedia

Nav1.4 Channel

347 automatically matched literature references

9

Nicole S et al. Skeletal muscle sodium channelopathies.
Curr. Opin. Neurol., 2015 Oct , 28 (508-514xs).

11

13

Basali D et al. Episodic weakness and vacuolar myopathy in hypokalemic periodic paralysis.
J Clin Neurosci, 2015 Nov , 22 (1846-7).

15

Arnold WD et al. Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
Ann. Neurol., 2015 May , 77 (840-50).

16

Yoshinaga H et al. Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Pediatr. Neurol., 2015 May , 52 (504-8).

21

23

28

Cannon SC Channelopathies of skeletal muscle excitability.
Compr Physiol, 2015 Apr , 5 (761-90).

29

Bugiardini E et al. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
Neuromuscul. Disord., 2015 Apr , 25 (301-7).

30

Mahdavi S et al. Mechanism of Ion Permeation in Mammalian Voltage-Gated Sodium Channels.
PLoS ONE, 2015 , 10 (e0133000).

31

36

Camargos TS et al. The Scorpion Toxin Tf2 from Tityus fasciolatus Promotes Nav1.3 Opening.
PLoS ONE, 2015 , 10 (e0128578).

37

Stunnenberg BC et al. Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?
Muscle Nerve, 2014 Sep , 50 (327-32).

40

43

Furby A et al. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Neuromuscul. Disord., 2014 Nov , 24 (953-9).

44

Holzherr B et al. A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.
Acta Myol, 2014 May , 33 (22-33).

46

Dabby R et al. Myotonia in DNM2-related centronuclear myopathy.
J Neural Transm, 2014 May , 121 (549-53).

48

Chen R et al. Mechanism of tetrodotoxin block and resistance in sodium channels.
Biochem. Biophys. Res. Commun., 2014 Mar 28 , 446 (370-4).

50

Coleman N et al. New Positive KCa Channel Gating Modulators with Selectivity for KCa3.1.
Mol. Pharmacol., 2014 Jun 23 , ().

51

Ben-Johny M et al. Conservation of Ca(2+)/Calmodulin Regulation across Na and Ca(2+) Channels.
Cell, 2014 Jun 19 , 157 (1657-70).

54

Foadi N et al. Inhibition of voltage-gated Na⁺ channels by the synthetic cannabinoid ajulemic acid.
Anesth. Analg., 2014 Jun , 118 (1238-45).

56

Jones JM et al. Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a.
Genesis, 2014 Feb , 52 (141-8).

63

Zimmer T et al. Voltage-gated sodium channels in the mammalian heart.
Glob Cardiol Sci Pract, 2014 , 2014 (449-63).

65

Mahdavi S et al. Systematic study of binding of μ-conotoxins to the sodium channel NaV1.4.
Toxins (Basel), 2014 , 6 (3454-70).

71

Hernãndez-Ochoa EO et al. Elevated nuclear Foxo1 suppresses excitability of skeletal muscle fibers.
Am. J. Physiol., Cell Physiol., 2013 Sep 15 , 305 (C643-53).

76

Black JA et al. Noncanonical roles of voltage-gated sodium channels.
Neuron, 2013 Oct 16 , 80 (280-91).

78

Wu M et al. A naturally occurring amino acid substitution in the voltage-dependent sodium channel selectivity filter affects channel gating.
J. Comp. Physiol. A Neuroethol. Sens. Neural. Behav. Physiol., 2013 Oct , 199 (829-42).

79

82

Wei CJ et al. [Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].
Zhonghua Er Ke Za Zhi, 2013 Jan , 51 (47-51).

85

Stevens M et al. Block of a subset of sodium channels exacerbates experimental autoimmune encephalomyelitis.
J. Neuroimmunol., 2013 Aug 15 , 261 (21-8).

87

Morrow JM et al. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Neuromuscul. Disord., 2013 Aug , 23 (637-46).

88

Kaufmann SG et al. Distribution and function of sodium channel subtypes in human atrial myocardium.
J. Mol. Cell. Cardiol., 2013 Aug , 61 (133-41).

90

93

Hehir MK et al. Double trouble in a patient with myotonia.
BMJ Case Rep, 2013 , 2013 ().

95

Nakatani Y et al. Effect of lamotrigine on Na(v)1.4 voltage-gated sodium channels.
J. Pharmacol. Sci., 2013 , 123 (203-6).

102

Nurputra DK et al. Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Pediatr Int, 2012 Oct , 54 (602-12).

103

Gosselin-Badaroudine P et al. Gating pore currents and the resting state of Nav1.4 voltage sensor domains.
Proc. Natl. Acad. Sci. U.S.A., 2012 Nov 20 , 109 (19250-5).

109

Catalano A et al. An improved synthesis of m-hydroxymexiletine, a potent mexiletine metabolite.
Drug Metab Lett, 2012 Jun 1 , 6 (124-8).

113

Song YW et al. Normokalemic periodic paralysis is not a distinct disease.
Muscle Nerve, 2012 Dec , 46 (914-6).

115

Yoshinaga H et al. A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
J. Neurol. Sci., 2012 Apr 15 , 315 (15-9).

116

Sung CC et al. Genotype and phenotype analysis of patients with sporadic periodic paralysis.
Am. J. Med. Sci., 2012 Apr , 343 (281-5).

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126

Simkin D et al. Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.
J. Physiol. (Lond.), 2011 Jul 1 , 589 (3115-24).

129

Matthews E et al. Stridor as a neonatal presentation of skeletal muscle sodium channelopathy.
Arch. Neurol., 2011 Jan , 68 (127-9).

130

Widmark J et al. Differential evolution of voltage-gated sodium channels in tetrapods and teleost fishes.
Mol. Biol. Evol., 2011 Jan , 28 (859-71).

137

Bissay V et al. Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
Neuromuscul. Disord., 2011 Aug , 21 (590-3).

139

Incecik F et al. Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Turk. J. Pediatr., 2010 Jul-Aug , 52 (409-10).

140

142

Raja Rayan DL et al. Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.
Curr. Opin. Neurol., 2010 Oct , 23 (466-76).

144

145

Stunnenberg BC et al. Isolated eyelid closure myotonia in two families with sodium channel myotonia.
Neurogenetics, 2010 May , 11 (257-60).

148

Desaphy JF et al. Molecular determinants of state-dependent block of voltage-gated sodium channels by pilsicainide.
Br. J. Pharmacol., 2010 Jul , 160 (1521-33).

153

Arnegard ME et al. Old gene duplication facilitates origin and diversification of an innovative communication system--twice.
Proc. Natl. Acad. Sci. U.S.A., 2010 Dec 21 , 107 (22172-7).

155

159

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Arzel-Hézode M et al. Homozygosity for dominant mutations increases severity of muscle channelopathies.
Muscle Nerve, 2009 Oct 30 , ().

162

164

Matthews E et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Neurology, 2009 May 5 , 72 (1544-7).

165

166

Kubota T et al. New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Muscle Nerve, 2009 May , 39 (666-73).

167

168

Trip J et al. Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
J. Neurol. Neurosurg. Psychiatr., 2009 Jun , 80 (647-52).

169

Maffè S et al. Atypical arrhythmic complications in familial hypokalemic periodic paralysis.
J Cardiovasc Med (Hagerstown), 2009 Jan , 10 (68-71).

176

Mankodi A Myotonic disorders.
, 2008 Jul-Sep , 56 (298-304).

186

Biswas S et al. Calmodulin regulation of Nav1.4 current: role of binding to the carboxyl terminus.
J. Gen. Physiol., 2008 Mar , 131 (197-209).

187

Vendrame F et al. Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis.
Ann. Clin. Biochem., 2008 Mar , 45 (218-20).

188

Wang GK et al. Block of persistent late Na+ currents by antidepressant sertraline and paroxetine.
J. Membr. Biol., 2008 Mar , 222 (79-90).

189

Zakon HH et al. Molecular evolution of communication signals in electric fish.
J. Exp. Biol., 2008 Jun , 211 (1814-8).

190

192

Cherian A et al. Muscle channelopathies and electrophysiological approach.
Ann Indian Acad Neurol, 2008 Jan , 11 (20-7).

197

202

Rossignol E et al. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Neurology, 2007 Nov 13 , 69 (1937-41).

203

Sallansonnet-Froment M et al. [Eulenburg's paramyotonia congenita]
Rev. Neurol. (Paris), 2007 Nov , 163 (1083-90).

205

Houinato D et al. Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
Neuromuscul. Disord., 2007 May , 17 (419-22).

208

Ouyang W et al. Isoform-selective effects of isoflurane on voltage-gated Na+ channels.
Anesthesiology, 2007 Jul , 107 (91-8).

211

Tagami T et al. Toxic thyroid adenoma presenting as hypokalemic periodic paralysis.
Endocr. J., 2007 Dec , 54 (797-803).

215

Carle T et al. Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
Biochem. Biophys. Res. Commun., 2006 Sep 22 , 348 (653-61).

219

222

Ke Q et al. [R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2006 Jun , 23 (272-4).

223

Hsu WC et al. Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
J. Formos. Med. Assoc., 2006 Jun , 105 (503-7).

224

Colding-Jørgensen E et al. Autosomal dominant monosymptomatic myotonia permanens.
Neurology, 2006 Jul 11 , 67 (153-5).

225

Kim JA et al. Augmentation of Cav3.2 T-type calcium channel activity by cAMP-dependent protein kinase A.
J. Pharmacol. Exp. Ther., 2006 Jul , 318 (230-7).

227

Venance SL et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Brain, 2006 Jan , 129 (8-17).

228

229

Ren X et al. [Mutation of Thr704Met in SCN 4A causes normoKPP in a Chinese family]
Yi Chuan, 2006 Aug , 28 (923-6).

230

Wang W et al. Mutation screening in Chinese hypokalemic periodic paralysis patients.
Mol. Genet. Metab., 2006 Apr , 87 (359-63).

231

Teener JW et al. Dysregulation of sodium channel gating in critical illness myopathy.
J. Muscle Res. Cell. Motil., 2006 , 27 (291-6).

232

Vicart S et al. Human skeletal muscle sodium channelopathies.
Neurol. Sci., 2005 Oct , 26 (194-202).

234

Young KA et al. Modulation of skeletal and cardiac voltage-gated sodium channels by calmodulin.
J. Physiol. (Lond.), 2005 Jun 1 , 565 (349-70).

238

Gauthereau MY et al. A mutation in the local anaesthetic binding site abolishes toluene effects in sodium channels.
Eur. J. Pharmacol., 2005 Dec 28 , 528 (17-26).

239

Lipkind GM et al. Molecular modeling of local anesthetic drug binding by voltage-gated sodium channels.
Mol. Pharmacol., 2005 Dec , 68 (1611-22).

240

Pincin C et al. Minimal sodium channel pore consisting of S5-P-S6 segments preserves intracellular pharmacology.
Biochem. Biophys. Res. Commun., 2005 Aug 19 , 334 (140-4).

242

Mohammadi B et al. Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Pharmacogenet. Genomics, 2005 Apr , 15 (235-44).

245

Dice MS et al. Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
Muscle Nerve, 2004 Sep , 30 (277-88).

247

Miller TM et al. Correlating phenotype and genotype in the periodic paralyses.
Neurology, 2004 Nov 9 , 63 (1647-55).

248

Venance SL et al. SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
Neurology, 2004 Nov 23 , 63 (1977).

250

Links TP et al. [From gene to diseases; hypokalemic periodic paralysis]
, 2004 May 22 , 148 (1035-8).

254

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Andreux F et al. [Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation]
Rev. Neurol. (Paris), 2004 Feb , 160 (163-76).

259

Vicart S et al. New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Neurology, 2004 Dec 14 , 63 (2120-7).

261

McNulty MM et al. State-dependent mibefradil block of Na+ channels.
Mol. Pharmacol., 2004 Dec , 66 (1652-61).

262

Guo XH et al. [The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis.]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2004 Dec , 21 (566-9).

263

Lane AH et al. Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.
J. Pediatr. Endocrinol. Metab., 2004 Dec , 17 (1679-82).

266

Wang GK et al. State-dependent block of wild-type and inactivation-deficient Na+ channels by flecainide.
J. Gen. Physiol., 2003 Sep , 122 (365-74).

273

Wang GK et al. Veratridine block of rat skeletal muscle Nav1.4 sodium channels in the inner vestibule.
J. Physiol. (Lond.), 2003 May 1 , 548 (667-75).

276

Tsujino A et al. Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
Proc. Natl. Acad. Sci. U.S.A., 2003 Jun 10 , 100 (7377-82).

278

Péréon Y et al. Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
Neurology, 2003 Jan 28 , 60 (340-2).

280

282

Wang SY et al. Tryptophan scanning of D1S6 and D4S6 C-termini in voltage-gated sodium channels.
Biophys. J., 2003 Aug , 85 (911-20).

285

Wang GK et al. Modifications of human cardiac sodium channel gating by UVA light.
J. Membr. Biol., 2002 Sep 15 , 189 (153-65).

286

Shirakawa T et al. A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A.
Neurology, 2002 Oct 8 , 59 (1091-4).

289

Zimmer T et al. Mouse heart Na+ channels: primary structure and function of two isoforms and alternatively spliced variants.
Am. J. Physiol. Heart Circ. Physiol., 2002 Mar , 282 (H1007-17).

293

Chinnery PF et al. Normokalemic periodic paralysis revisited: does it exist?
Ann. Neurol., 2002 Aug , 52 (251-2).

298

Ikeda Y et al. [Familial hypokalemic periodic paralysis]
, 2001 Nov , 11 (1464-7).

300

Ribaux P et al. Voltage-gated sodium channel (SkM1) content in dystrophin-deficient muscle.
Pflugers Arch., 2001 Mar , 441 (746-55).

307

309

Sampaolo S et al. Lack of sodium channel mutation in an Italian family with paramyotonia congenita.
Neurology, 1999 Oct 22 , 53 (1549-55).

313

Bulman DE et al. A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
Neurology, 1999 Dec 10 , 53 (1932-6).

318

Rosenfeld J et al. A novel muscle sodium channel mutation causes painful congenital myotonia.
Ann. Neurol., 1997 Nov , 42 (811-4).

322

Ruscák J [Molecular genetics of sodium channel myopathies]
, 1997 Dec , 98 (701-7).

323

Wu Q et al. U1-mediated exon definition interactions between AT-AC and GT-AG introns.
Science, 1996 Nov 8 , 274 (1005-8).

327

Iaizzo PA et al. Differential diagnosis of periodic paralysis aided by in vitro myography.
Neuromuscul. Disord., 1995 Mar , 5 (115-24).

328

Lehmann-Horn F et al. Myotonia levior is a chloride channel disorder.
Hum. Mol. Genet., 1995 Aug , 4 (1397-402).

330

Hudson AJ et al. The skeletal muscle sodium and chloride channel diseases.
Brain, 1995 Apr , 118 ( Pt 2) (547-63).

332

Heine R et al. A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
Hum. Mol. Genet., 1993 Sep , 2 (1349-53).

334

George AL et al. Genomic organization of the human skeletal muscle sodium channel gene.
Genomics, 1993 Mar , 15 (598-606).

338

McClatchey AI et al. The genomic structure of the human skeletal muscle sodium channel gene.
Hum. Mol. Genet., 1992 Oct , 1 (521-7).

341

342

Abdalla JA et al. Linkage analysis of candidate loci in autosomal dominant myotonia congenita.
Neurology, 1992 Aug , 42 (1561-4).

344