De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome / Suls A; Jaehn JA; Kecskés A; Weber Y; Weckhuysen S; Craiu DC; Siekierska A; Djémié T; Afrikanova T; Gormley P; von Spiczak S; Kluger G; Iliescu CM; Talvik T; Talvik I; Meral C; Caglayan HS; Giraldez BG; Serratosa J; Lemke JR; Hoffman-Zacharska D; Szczepanik E; Barisic N; Komarek V; Hjalgrim H; Møller RS; Linnankivi T; Dimova P; Striano P; Zara F; Marini C; Guerrini R; Depienne C; Baulac S; Kuhlenbäumer G; Crawford AD; Lehesjoki AE; de Witte PA; Palotie A; Lerche H; Esguerra CV; De Jonghe P; Helbig I; EuroEPINOMICS RES Consortium. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - STAMPA. - 93:(2013), pp. 967-975.
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Marini C;GUERRINI, RENZO;
2013
Abstract
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
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