First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

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dc.contributor.author Schüle-Freyer, Rebecca
dc.contributor.author Synofzik, Matthis
dc.date.accessioned 2015-09-24T13:53:33Z
dc.date.available 2015-09-24T13:53:33Z
dc.date.issued 2015
dc.identifier.issn 1471-2350
dc.identifier.uri http://hdl.handle.net/10900/65054
dc.language.iso en en
dc.publisher Biomed Central Ltd de_DE
dc.relation.uri http://dx.doi.org/10.1186/s12881-015-0200-3
dc.rights info:eu-repo/semantics/closedAccess
dc.subject.ddc 570 de_DE
dc.subject.ddc 610 de_DE
dc.title First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy de_DE
dc.type Article de_DE
utue.quellen.id 20150901145020_00125
utue.personen.roh Smets, Katrien
utue.personen.roh Duarri, Anna
utue.personen.roh Deconinck, Tine
utue.personen.roh Ceulemans, Berten
utue.personen.roh van de Warrenburg, Bart P.
utue.personen.roh Zuechner, Stephan
utue.personen.roh Gonzalez, Michael Anthony
utue.personen.roh Schuele, Rebecca
utue.personen.roh Synofzik, Matthis
utue.personen.roh Van der Aa, Nathalie
utue.personen.roh De Jonghe, Peter
utue.personen.roh Verbeek, Dineke S.
utue.personen.roh Baets, Jonathan
dcterms.isPartOf.ZSTitelID Bmc Medical Genetics de_DE
dcterms.isPartOf.ZS-Issue Article 51 de_DE
dcterms.isPartOf.ZS-Volume 16 de_DE
utue.fakultaet 04 Medizinische Fakultät


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