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Article

Mutations underlying Episodic Ataxia type-1 antagonize Kv1.1 RNA editing.

Scientific reports - 20 Feb 2017

Ferrick-Kiddie Elizabeth A, Rosenthal Joshua J C, Ayers Gregory D, Emeson Ronald B

Abstract excerpt

Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures. Three EA1 mutations,...

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Identifiers

PMID: 28216637
DOI: 10.1038/srep41095
PMCID: PMC5316942

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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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