Article
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
American journal of human genetics - 7 Nov 2013
Suls Arvid, Jaehn Johanna A, Kecskés Angela, Weber Yvonne, Weckhuysen Sarah, Craiu Dana C, Siekierska Aleksandra, Djémié Tania, Afrikanova Tatiana, Gormley Padhraig, von Spiczak Sarah, Kluger Gerhard, Iliescu Catrinel M, Talvik Tiina, Talvik Inga, Meral Cihan, Caglayan Hande S, Giraldez Beatriz G, Serratosa José, Lemke Johannes R, Hoffman-Zacharska Dorota, Szczepanik Elzbieta, Barisic Nina, Komarek Vladimir, Hjalgrim Helle, Møller Rikke S, Linnankivi Tarja, Dimova Petia, Striano Pasquale, Zara Federico, Marini Carla, Guerrini Renzo, Depienne Christel, Baulac Stéphanie, Kuhlenbäumer Gregor, Crawford Alexander D, Lehesjoki Anna-Elina, de Witte Peter A M, Palotie Aarno, Lerche Holger, Esguerra Camila V, De Jonghe Peter, Helbig Ingo
Abstract excerpt
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy-resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2...
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