De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

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De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Author: Suls, Arvid; Jaehn, Johanna A.; Kecskes, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana C.; Siekierska, Aleksandra; Djemie, 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, Jose; Lemke, Johannes R.; Hoffman-Zacharska, Dorota; Szczepanik, Elzbieta; Barisic, Nina; Komarek, Vladimir; Hjalgrim, Helle; Moller, Rikke S.; Linnankivi, Tarja; Dimova, Petia; Striano, Pasquale; Zara, Federico; Marini, Carla; Guerrini, Renzo; Depienne, Christel; Baulac, Stephanie; Kuhlenbaeumer, Gregor; Crawford, Alexander D.; Lehesjoki, Anna-Elina; de Witte, Peter A. M.; Palotie, Aarno; Lerche, Holger; Esguerra, Camila V.; De Jonghe, Peter; Helbig, Ingo
Tübinger Autor(en):
Weber, Yvonne G.
Lerche, Holger
Published in: American Journal of Human Genetics (2013), Bd. 93, H. 5, S. 967-975
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2013.09.017
ISSN: 0002-9297
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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