Article
First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.
Cephalalgia : an international journal of headache - 1 Mar 2009
Castro M-J, Stam A H, Lemos C, de Vries B, Vanmolkot K R J, Barros J, Terwindt G M, Frants R R, Sequeiros J, Ferrari M D, Pereira-Monteiro J M, van den Maagdenberg A M J M
Abstract excerpt
Almost all mutations in the SCN1A gene, encoding the alpha(1) subunit of neuronal voltage-gated Na(V)1.1 sodium channels, are associated with severe childhood epilepsy. Recently, two mutations were identified in patients with pure familial hemiplegic migraine (FHM). Here, we identified a novel SCN1A L263V mutation in a Portuguese family with partly co-segregating hemiplegic migraine and epilepsy. The L263V...
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