De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
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| Description | scientific article |
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author: Federico Zara Aarno Palotie Renzo Guerrini Camila V Esguerra Padhraig Gormley Elżbieta Szczepanik Arvid Suls Sarah von Spiczak Dana Craiu Hande Caglayan Dorota Hoffman-Zacharska Johannes R Lemke Christel Depienne Rikke S Møller Inga Talvik Peter De Jonghe Anna-Elina Lehesjoki Pasquale Striano Gerhard Kluger Nina Barisic Sarah Weckhuysen Ingo Helbig Holger Lerche Tarja Linnankivi Carla Marini Tania Djémié Alexander D Crawford Helle Hjalgrim Stéphanie Baulac Gregor Kuhlenbäumer |
| Publication date | November 7, 2013 |
| Language | English |
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