Article
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Cephalalgia : an international journal of headache - 1 Nov 2016
Fan Chunxiang, Wolking Stefan, Lehmann-Horn Frank, Hedrich Ulrike Bs, Freilinger Tobias, Lerche Holger, Borck Guntram, Kubisch Christian, Jurkat-Rott Karin
Abstract excerpt
Introduction Familial hemiplegic migraine (FHM) is a rare autosomal dominant subtype of migraine with aura. The FHM3 subtype is caused by mutations in SCN1A, which is also the most frequent epilepsy gene encoding the voltage-gated Na+ channel NaV1.1. The aim of this study was to explore the clinical, genetic and pathogenetic features of a pure FHM3 family. Methods A three-generation family was enrolled in this...
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