Channelpedia

PubMed 11236374


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1



Title: [From gene to disease; from CACNA1A to migraine]

Authors: E E Kors, J Haan, R R Frants, M D Ferrari

Journal, date & volume: , 2001 Feb 10 , 145, 266-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11236374


Abstract
Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. FHM is associated in half the families with mutations in the CACNA1A gene on chromosome 19P13, encoding the alpha-1A subunit of brain-specific P/Q-type calcium channels. P/Q-type calcium channels are important in neurotransmitter release. The first functional studies indicate that mutations causing FHM result in a gain or loss of function of P/Q-type calcium channels. Affected sib-pair analysis in families with migraine with and without aura indicates involvement of the CACNA1A gene in these more frequent types of migraine.