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

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

scientific article published on 21 July 2015

Author/s

author: Matthis Synofzik, Rebecca Schüle, Stephan Züchner, Bart Petrus Christoffel van de Warrenburg, Nathalie Van der Aa

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Work details

Publication date

July 21, 2015

Language

English

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