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

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

dc.contributor.author	Weber, Yvonne G.	de_DE
dc.contributor.author	Lerche, Holger	de_DE
dc.date.accessioned	2014-02-04T10:27:29Z
dc.date.available	2014-02-04T10:27:29Z
dc.date.issued	2013	de_DE
dc.identifier.issn	0002-9297	de_DE
dc.identifier.uri	http://hdl.handle.net/10900/40556
dc.language.iso	en	en
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2013.09.017	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome	de_DE
dc.type	Article	de_DE
utue.quellen.id	20140116051827_00207	de_DE
utue.publikation.seiten	967-975	de_DE
utue.personen.roh	Suls, Arvid	de_DE
utue.personen.roh	Jaehn, Johanna A.	de_DE
utue.personen.roh	Kecskes, Angela	de_DE
utue.personen.roh	Weber, Yvonne	de_DE
utue.personen.roh	Weckhuysen, Sarah	de_DE
utue.personen.roh	Craiu, Dana C.	de_DE
utue.personen.roh	Siekierska, Aleksandra	de_DE
utue.personen.roh	Djemie, Tania	de_DE
utue.personen.roh	Afrikanova, Tatiana	de_DE
utue.personen.roh	Gormley, Padhraig	de_DE
utue.personen.roh	von Spiczak, Sarah	de_DE
utue.personen.roh	Kluger, Gerhard	de_DE
utue.personen.roh	Iliescu, Catrinel M.	de_DE
utue.personen.roh	Talvik, Tiina	de_DE
utue.personen.roh	Talvik, Inga	de_DE
utue.personen.roh	Meral, Cihan	de_DE
utue.personen.roh	Caglayan, Hande S.	de_DE
utue.personen.roh	Giraldez, Beatriz G.	de_DE
utue.personen.roh	Serratosa, Jose	de_DE
utue.personen.roh	Lemke, Johannes R.	de_DE
utue.personen.roh	Hoffman-Zacharska, Dorota	de_DE
utue.personen.roh	Szczepanik, Elzbieta	de_DE
utue.personen.roh	Barisic, Nina	de_DE
utue.personen.roh	Komarek, Vladimir	de_DE
utue.personen.roh	Hjalgrim, Helle	de_DE
utue.personen.roh	Moller, Rikke S.	de_DE
utue.personen.roh	Linnankivi, Tarja	de_DE
utue.personen.roh	Dimova, Petia	de_DE
utue.personen.roh	Striano, Pasquale	de_DE
utue.personen.roh	Zara, Federico	de_DE
utue.personen.roh	Marini, Carla	de_DE
utue.personen.roh	Guerrini, Renzo	de_DE
utue.personen.roh	Depienne, Christel	de_DE
utue.personen.roh	Baulac, Stephanie	de_DE
utue.personen.roh	Kuhlenbaeumer, Gregor	de_DE
utue.personen.roh	Crawford, Alexander D.	de_DE
utue.personen.roh	Lehesjoki, Anna-Elina	de_DE
utue.personen.roh	de Witte, Peter A. M.	de_DE
utue.personen.roh	Palotie, Aarno	de_DE
utue.personen.roh	Lerche, Holger	de_DE
utue.personen.roh	Esguerra, Camila V.	de_DE
utue.personen.roh	De Jonghe, Peter	de_DE
utue.personen.roh	Helbig, Ingo	de_DE
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	93	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE