Article
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.
Human mutation - 1 May 2007
Vanmolkot Kaate R J, Babini Elena, de Vries Boukje, Stam Anine H, Freilinger Tobias, Terwindt Gisela M, Norris Lisa, Haan Joost, Frants Rune R, Ramadan Nabih M, Ferrari Michel D, Pusch Michael, van den Maagdenberg Arn M J M, Dichgans Martin
Abstract excerpt
Familial hemiplegic migraine (FHM) is a severe subtype of migraine with hemiparesis during attacks. We scanned 10 families with FHM without mutations in the CACNA1A (FHM1) and ATP1A2 (FHM2) genes. We identified the novel p.L1649Q mutation (c.4946T>A) in Na(v)1.1 sodium channel gene SCN1A (FHM3) in a North American kindred with FHM without associated ataxia or epilepsy. Functional analysis of the mutation,...
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