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

BACKGROUND: Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and phenotypic spectrum. METHODS: Whole exome sequencing in a cerebellar ataxia...

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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: Smets, Katrien, Duarri, Anna, Deconinck, Tine, Ceulemans, Berten, van de Warrenburg, Bart P., Züchner, Stephan, Gonzalez, Michael Anthony, Schüle, Rebecca, Synofzik, Matthis, Van der Aa, Nathalie, De Jonghe, Peter, Verbeek, Dineke S., Baets, Jonathan
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557545/
https://ncbi.nlm.nih.gov/pubmed/26189493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0200-3
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