Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

David L. Browne, Stephen T. Gancher, John Nutt, Ewout R P Brunt, Eric A. Smith, Patricia Kramer, Michael Litt

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Abstract

Episodic ataxia (EA) is a rare, familial disorder producing attacks of generalized ataxia, with normal or near-normal neurological function between attacks. One type of EA is characterized by brief episodes of ataxia with myokymia (rippling of muscles) evident between attacks. Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p. Mutation analysis of the KCNA1 coding region in these families identified four different missense point mutations present in the heterozygous state, indicating that EA/myokymia can result from mutations in this gene.

Original languageEnglish (US)
Pages (from-to)136-140
Number of pages5
JournalNature Genetics
Volume8
Issue number2
DOIs
Publication statusPublished - Oct 1994

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ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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