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Article

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2009

Demos Michelle K, Macri Vincenzo, Farrell Kevin, Nelson Tanya N, Chapman Kristine, Accili Eric, Armstrong Linlea

Abstract excerpt

Episodic Ataxia Type 1 is an autosomal dominant disorder characterized by episodes of ataxia and myokymia. It is associated with mutations in the KCNA1 voltage-gated potassium channel gene. In the present study, we describe a family with novel clinical features including persistent cerebellar dysfunction, cerebellar atrophy, and cognitive delay. All affected family members have myokymia and epilepsy, but only one...

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Source

Identifiers

PMID: 19205071
DOI: 10.1002/mds.22467

Genes

KCNA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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