Referenced in: none

Automatically associated channels: Kv1.4 , Kv3.1 , Kv4.1 , Kv4.3

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

Authors: Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P Van de Warrenburg, Stephan Züchner, Michael Anthony Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S Verbeek, Jonathan Baets

Journal, date & volume: BMC Med. Genet., 2015 , 16, 51

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26189493

Abstract