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

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-sy...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: Elsevier 2013
الموضوعات:
Report
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824114/
https://ncbi.nlm.nih.gov/pubmed/24207121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.09.017
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