Article
The genetics of Dravet syndrome.
Epilepsia - 1 Apr 2011
Marini Carla, Scheffer Ingrid E, Nabbout Rima, Suls Arvid, De Jonghe Peter, Zara Federico, Guerrini Renzo
Abstract excerpt
Dravet syndrome (DS), otherwise known as severe myoclonic epilepsy of infancy (SMEI), is an epileptic encephalopathy presenting in the first year of life. DS has a genetic etiology: between 70% and 80% of patients carry sodium channel α1 subunit gene (SCN1A) abnormalities, and truncating mutations account for about 40% and have a significant correlation with an earlier age of seizures onset. The remaining SCN1A...
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