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

Author: Smets, Katrien; Duarri, Anna; Deconinck, Tine; Ceulemans, Berten; van de Warrenburg, Bart P.; Zuechner, Stephan; Gonzalez, Michael Anthony; Schuele, Rebecca; Synofzik, Matthis; Van der Aa, Nathalie; De Jonghe, Peter; Verbeek, Dineke S.; Baets, Jonathan
Tübinger Autor(en):
Schüle-Freyer, Rebecca
Synofzik, Matthis Benjamin
Published in: Bmc Medical Genetics (2015), Bd. 16, Article 51
Verlagsangabe: Biomed Central Ltd
Language: English
Full text: http://dx.doi.org/10.1186/s12881-015-0200-3
ISSN: 1471-2350
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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