A novel KCNA1 mutation causing episodic ataxia type I

ABSTRACT We describe the clinical phenotype of a novel de novo KNCA1 mutation, and functional characterization of the effects of the mutation on Kv1.1 channel function. HEK293 cells were transfected transiently with either wild‐type or mutant channels. Representative currents were evoked after appli...

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Veröffentlicht in:	Muscle & nerve 2014-08, Vol.50 (2), p.289-291
Hauptverfasser:	Lassche, Saskia, Lainez, Sergio, Bloem, Bastiaan R., van de Warrenburg, Bart P.C., Hofmeijer, Jeannette, Lemmink, Henny H., Hoenderop, Joost G.J., Bindels, René J.M., Drost, Gea
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Ataxia channelopathy DNA Mutational Analysis episodic ataxia type 1 Humans ion channels KCNA1 Kv1.1 Potassium Channel - genetics Mutation Mutation - genetics potassium channel Spinocerebellar Ataxias - genetics
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