Article
Early clinical features in Dravet syndrome patients with and without SCN1A mutations.
Epilepsy research - 1 Mar 2012
Petrelli Cristina, Passamonti Claudia, Cesaroni Elisabetta, Mei Davide, Guerrini Renzo, Zamponi Nelia, Provinciali Leandro
Abstract excerpt
BACKGROUND: SCN1A is the most clinically relevant epilepsy gene, most mutations causing Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI). We evaluated clinical differences, if any, between young patients with and without a SCN1A mutations and a definite clinical diagnosis of Dravet syndrome. METHODS: Twenty-five patients with a diagnosis of Dravet Syndrome (7 males, 18 females; mean...
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