Article
A novel KCNA1 mutation causing episodic ataxia type I.
Muscle & nerve - 1 Aug 2014
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
Abstract excerpt
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 application of a series of square voltage steps from -80 mV to +50 mV in 200-ms intervals from Vh = -80 mV. Extracellular K(+) was...
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