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Article

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.

Muscle & nerve - 1 Mar 2008

Shook Steven J, Mamsa Hafsa, Jen Joanna C, Baloh Robert W, Zhou Lan

Abstract excerpt

Episodic ataxia type 1 (EA1) is an autosomal-dominant neurological disease caused by point mutations in the potassium channel-encoding gene KCNA1. It is characterized by attacks of ataxia and continuous myokymia. Respiratory muscle involvement has not been previously reported in EA1. We clinically evaluated a family with features of EA1 and paroxysmal shortness of breath. Coding and flanking intronic regions of...

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Source

Identifiers

PMID: 17912752
DOI: 10.1002/mus.20904

Genes

KCNA1

Provenance

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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Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.PMID 17912752Read ↗

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Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.Semantic proximity Read ↗

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