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Comparative Study
. 1994 Oct;8(2):136-40.
doi: 10.1038/ng1094-136.

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

D L Browne  1 , S T Gancher, J G Nutt, E R Brunt, E A Smith, P Kramer, M Litt
Affiliations
Comparative Study

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

D L Browne et al. Nat Genet. 1994 Oct.

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.

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Comment in

  • Ion channel shake-down.
    Ptácek L. Ptácek L. Nat Genet. 1994 Oct;8(2):111-2. doi: 10.1038/ng1094-111. Nat Genet. 1994. PMID: 7531055 No abstract available.

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