Article
Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.
European journal of human genetics : EJHG - 1 May 2006
Vanmolkot Kaate R J, Kors Esther E, Turk Ulku, Turkdogan Dylsad, Keyser Antoine, Broos Ludo A M, Kia Sima Kheradmand, van den Heuvel Jeroen J M W, Black David F, Haan Joost, Frants Rune R, Barone Virginia, Ferrari Michel D, Casari Giorgio, Koenderink Jan B, van den Maagdenberg Arn M J M
Abstract excerpt
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in which hemiparesis occurs during the aura. The majority of the families carry mutations in the CACNA1A gene on chromosome 19p13 (FHM1). About 20% of FHM families is linked to chromosome 1q23 (FHM2), and has mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na,K-ATPase. Mutation analysis in a Dutch and...
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