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Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migr...

Castro, Maria-José; Stam, Anine H.; Lemos, Carolina; Barros, José; Gil-Gouveia, Raquel; Martins, Isabel Pavão; Koenderink, Jan B.

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 i...


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