Article
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.
American journal of human genetics - 1 Jan 1999
Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez M A, Ponsot G, Bousser M G, Tournier-Lasserve E
Abstract excerpt
Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM famili...
Topics
- Calcium Channels
- Cerebellar Ataxia
- Chromosomes, Human, Pair 19
- Female
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Male
- Migraine Disorders
- Mutation