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

✍ Scribed by 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

• Book ID: 121379249
• Publisher: American Society of Human Genetics
• Year: 2013
• Tongue: English
• Weight: 564 KB
• Volume: 93
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2013.09.017