2 documents found, page 1 of 1
The C677T polymorphism in MTHFR is not associated with migraine in Portugal
Ferro, Anabela; Castro, Maria-José; Lemos, Carolina; Santos, Mónica; Sousa, Alda; Pereira-Monteiro, José; Sequeiros, Jorge; Maciel, P.Migraine is a debilitating disorder affecting a large proportion of the population. The effect of methylenetetrahydrofolate reductase (GeneID: 4524) polymorphisms in migraine etiology and development has been a theme of great interest. Several populations were evaluated with contradictory results. In this case-control study, we investigated the effect of the C677T polymorphism in MTHFR, as a genetic risk factor...
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...