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Article

The episodic ataxia type 1 mutation I262T alters voltage-dependent gating and disrupts protein biosynthesis of human Kv1.1 potassium channels.

Scientific reports - 18 Jan 2016

Chen Szu-Han, Fu Ssu-Ju, Huang Jing-Jia, Tang Chih-Yung

Abstract excerpt

Voltage-gated potassium (Kv) channels are essential for setting neuronal membrane excitability. Mutations in human Kv1.1 channels are linked to episodic ataxia type 1 (EA1). The EA1-associated mutation I262T was identified from a patient with atypical phenotypes. Although a previous report has characterized its suppression effect, several key questions regarding the impact of the I262T mutation on Kv1.1 as well...

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Identifiers

PMID: 26778656
DOI: 10.1038/srep19378
PMCID: PMC4726062

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