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Article

Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.

Archives of biochemistry and biophysics - 15 Aug 2012

Zhu Jing, Alsaber Rami, Zhao Jian, Ribeiro-Hurley Eugenia, Thornhill William B

Abstract excerpt

Episodic ataxia type 1 (EA-1) is an autosomal dominant neurological disorder caused by mutations in the potassium channel Kv1.1. Two EA-1 mutations, I262T and S342I, have been identified with unique clinical phenotypes, but their functional and biochemical properties have not been fully investigated. Here we characterized these two mutations in transfected mammalian cells both electrophysiologically and...

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PMID: 22609616
DOI: 10.1016/j.abb.2012.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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