Article
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes.
Clinical genetics - 1 Jan 2008
Castro M-J, Nunes B, de Vries B, Lemos C, Vanmolkot K R J, van den Heuvel J J M W, Temudo T, Barros J, Sequeiros J, Frants R R, Koenderink J B, Pereira-Monteiro J M, van den Maagdenberg A M J M
Abstract excerpt
Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with familial hemiplegic migraine type 2. The majority of ATP1A2 mutations were reported in patients with hemiplegic migraine without any additional neurological findings. Here, we report on two novel ATP1A2 mutations that were identified in two Portuguese probands with hemiplegic migraine and interesting additional...
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