A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Muona, Mikko; Berkovic, Samuel F.; Dibbens, Leanne M.; Oliver, Karen L.; Maljevic, Snezana; Bayly, Marta A.; Joensuu, Tarja; Canafoglia, Laura; Franceschetti, Silvana; Michelucci, Roberto; Markkinen, Salla; Heron, Sarah E.; Hildebrand, Michael S.; Andermann, Eva; Andermann, Frederick; Gambardella, Antonio; Tinuper, Paolo; Licchetta, Laura; Scheffer, Ingrid E.; Criscuolo, Chiara; Filla, Alessandro; Ferlazzo, Edoardo; Ahmad, Jamil; Ahmad, Adeel; Baykan, Betul; Said, Edith; Topcu, Meral; Riguzzi, Patrizia; King, Mary D.; Ozkara, Cigdem; Andrade, Danielle M.; Engelsen, Bernt A.; Crespel, Arielle; Lindenau, Matthias; Lohmann, Ebba; Saletti, Veronica; Massano, Joao; Privitera, Michael; Espay, Alberto J.; Kauffmann, Birgit; Duchowny, Michael; Moller, Rikke S.; Straussberg, Rachel; Afawi, Zaid; Ben-Zeev, Bruria; Samocha, Kaitlin E.; Daly, Mark J.; Petrou, Steven; Lerche, Holger; Palotie, Aarno; Lehesjoki, Anna-Elina

dc.contributor.author	Maljevic, Snezana	de_DE
dc.contributor.author	Lohmann, Ebba	de_DE
dc.contributor.author	Lerche, Holger	de_DE
dc.date.accessioned	2015-04-27T14:19:17Z
dc.date.available	2015-04-27T14:19:17Z
dc.date.issued	2015	de_DE
dc.identifier.issn	1061-4036	de_DE
dc.identifier.uri	http://hdl.handle.net/10900/63001
dc.language.iso	en	en
dc.publisher	Nature Publishing Group	de_DE
dc.relation.uri	http://dx.doi.org/10.1038/ng.3144	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20150402110707_00518	de_DE
utue.publikation.seiten	39-	de_DE
utue.personen.roh	Muona, Mikko	de_DE
utue.personen.roh	Berkovic, Samuel F.	de_DE
utue.personen.roh	Dibbens, Leanne M.	de_DE
utue.personen.roh	Oliver, Karen L.	de_DE
utue.personen.roh	Maljevic, Snezana	de_DE
utue.personen.roh	Bayly, Marta A.	de_DE
utue.personen.roh	Joensuu, Tarja	de_DE
utue.personen.roh	Canafoglia, Laura	de_DE
utue.personen.roh	Franceschetti, Silvana	de_DE
utue.personen.roh	Michelucci, Roberto	de_DE
utue.personen.roh	Markkinen, Salla	de_DE
utue.personen.roh	Heron, Sarah E.	de_DE
utue.personen.roh	Hildebrand, Michael S.	de_DE
utue.personen.roh	Andermann, Eva	de_DE
utue.personen.roh	Andermann, Frederick	de_DE
utue.personen.roh	Gambardella, Antonio	de_DE
utue.personen.roh	Tinuper, Paolo	de_DE
utue.personen.roh	Licchetta, Laura	de_DE
utue.personen.roh	Scheffer, Ingrid E.	de_DE
utue.personen.roh	Criscuolo, Chiara	de_DE
utue.personen.roh	Filla, Alessandro	de_DE
utue.personen.roh	Ferlazzo, Edoardo	de_DE
utue.personen.roh	Ahmad, Jamil	de_DE
utue.personen.roh	Ahmad, Adeel	de_DE
utue.personen.roh	Baykan, Betul	de_DE
utue.personen.roh	Said, Edith	de_DE
utue.personen.roh	Topcu, Meral	de_DE
utue.personen.roh	Riguzzi, Patrizia	de_DE
utue.personen.roh	King, Mary D.	de_DE
utue.personen.roh	Ozkara, Cigdem	de_DE
utue.personen.roh	Andrade, Danielle M.	de_DE
utue.personen.roh	Engelsen, Bernt A.	de_DE
utue.personen.roh	Crespel, Arielle	de_DE
utue.personen.roh	Lindenau, Matthias	de_DE
utue.personen.roh	Lohmann, Ebba	de_DE
utue.personen.roh	Saletti, Veronica	de_DE
utue.personen.roh	Massano, Joao	de_DE
utue.personen.roh	Privitera, Michael	de_DE
utue.personen.roh	Espay, Alberto J.	de_DE
utue.personen.roh	Kauffmann, Birgit	de_DE
utue.personen.roh	Duchowny, Michael	de_DE
utue.personen.roh	Moller, Rikke S.	de_DE
utue.personen.roh	Straussberg, Rachel	de_DE
utue.personen.roh	Afawi, Zaid	de_DE
utue.personen.roh	Ben-Zeev, Bruria	de_DE
utue.personen.roh	Samocha, Kaitlin E.	de_DE
utue.personen.roh	Daly, Mark J.	de_DE
utue.personen.roh	Petrou, Steven	de_DE
utue.personen.roh	Lerche, Holger	de_DE
utue.personen.roh	Palotie, Aarno	de_DE
utue.personen.roh	Lehesjoki, Anna-Elina	de_DE
dcterms.isPartOf.ZSTitelID	Nature Genetics	de_DE
dcterms.isPartOf.ZS-Issue	1	de_DE
dcterms.isPartOf.ZS-Volume	47	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE