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P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy

✍ Scribed by R.A. Ophoff; G.M. Terwindt; R.R. Frants; M.D. Ferrari

Book ID
117341739
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
181 KB
Volume
19
Category
Article
ISSN
0165-6147

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## Abstract Episodic ataxia type 2 (EA2) is an autosomal dominant neurological disorder associated with mutations in the gene encoding pore‐forming Ξ±~1A~ subunits of human P/Q‐type calcium (Ca~V~2.1) channels. The exact mechanism of how mutant channels cause such clinical EA2 features as cerebellar