Article
Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.
Epilepsia - 1 Apr 2011
Verbeek Nienke E, van Kempen Marjan, Gunning W Boudewijn, Renier Willy O, Westland Birgit, Lindhout Dick, Brilstra Eva H
Abstract excerpt
Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene. We report on two unrelated fathers with severe childhood epilepsy compatible with a possible diagnosis of Dravet syndrome, who both have a child with Dravet syndrome. Analysis of the SCN1A gene revealed a pathogenic mutation in both children. One father exhibited somatic mosaicism for the...
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