Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect

Yang, Fang; Begemann, Anais; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Melanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clement; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P.; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H. C.; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita

dc.contributor.author	Lerche, Holger
dc.date.accessioned	2025-01-07T10:23:30Z
dc.date.available	2025-01-07T10:23:30Z
dc.date.issued	2024
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/159835
dc.language.iso	en	de_DE
dc.publisher	Cambridge : Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2024.04.014	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect	de_DE
dc.type	Article	de_DE
utue.quellen.id	20241001000000_01204
utue.publikation.seiten	1184-1205	de_DE
utue.personen.roh	Yang, Fang
utue.personen.roh	Begemann, Anais
utue.personen.roh	Reichhart, Nadine
utue.personen.roh	Haeckel, Akvile
utue.personen.roh	Steindl, Katharina
utue.personen.roh	Schellenberger, Eyk
utue.personen.roh	Sturm, Ronja Fini
utue.personen.roh	Barth, Magalie
utue.personen.roh	Bassani, Sissy
utue.personen.roh	Boonsawat, Paranchai
utue.personen.roh	Courtin, Thomas
utue.personen.roh	Delobel, Bruno
utue.personen.roh	Gunning, Boudewijn
utue.personen.roh	Hardies, Katia
utue.personen.roh	Jennesson, Melanie
utue.personen.roh	Legoff, Louis
utue.personen.roh	Linnankivi, Tarja
utue.personen.roh	Prouteau, Clement
utue.personen.roh	Smal, Noor
utue.personen.roh	Spodenkiewicz, Marta
utue.personen.roh	Toelle, Sandra P.
utue.personen.roh	Van Gassen, Koen
utue.personen.roh	Van Paesschen, Wim
utue.personen.roh	Verbeek, Nienke
utue.personen.roh	Ziegler, Alban
utue.personen.roh	Zweier, Markus
utue.personen.roh	Horn, Anselm H. C.
utue.personen.roh	Sticht, Heinrich
utue.personen.roh	Lerche, Holger
utue.personen.roh	Weckhuysen, Sarah
utue.personen.roh	Strauss, Olaf
utue.personen.roh	Rauch, Anita
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	6	de_DE
dcterms.isPartOf.ZS-Volume	111	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE