Article
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.
Journal of human genetics - 1 Jan 2007
Castro Maria-José, Stam Anine H, Lemos Carolina, Barros José, Gouveia Raquel G, Martins Isabel Pavão, Koenderink Jan B, Vanmolkot Kaate R J, Mendes Alexandre P, Frants Rune R, Ferrari Michel D, Sequeiros Jorge, Pereira-Monteiro José M, van den Maagdenberg Arn M J M
Abstract excerpt
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes have been identified, all involved in ion transport. There is considerable clinical variation associated with FHM mutations. Genotype-phenotype correlation studies are needed, but are challenging mainly because the number of carriers of individual mutations is low. One exception is the recurrent T666M mutation in...
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