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Article

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Brain : a journal of neurology - 1 Dec 2010

Tomlinson Susan E, Tan S Veronica, Kullmann Dimitri M, Griggs Robert C, Burke David, Hanna Michael G, Bostock Hugh

Abstract excerpt

Episodic ataxia type 1 is a neuronal channelopathy caused by mutations in the KCNA1 gene encoding the fast K(+) channel subunit K(v)1.1. Episodic ataxia type 1 presents with brief episodes of cerebellar dysfunction and persistent neuromyotonia and is associated with an increased incidence of epil...

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Source

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Identifiers

PMID: 21106501
DOI: 10.1093/brain/awq318
PMCID: PMC2995887

Genes

KCNA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21106501-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.PMID 21106501Read ↗

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Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.Semantic proximity Read ↗

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