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PMID: 7842011 Published · ppublish English Comparative Study Journal Article Research Support, U.S. Gov't, P.H.S.

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

Nature genetics ·Vol. 8 ·No. 2 ·1994-10-00 ·Pages 136-40

Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M

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.

MeSH Terms

Amino Acid Sequence Animals Ataxia/genetics Base Sequence Chromosome Mapping Chromosomes, Human, Pair 12 Drosophila Proteins Drosophila melanogaster/genetics Fasciculation/genetics Female Genes Humans Kv1.1 Potassium Channel Male Mice Molecular Sequence Data Pedigree Point Mutation Potassium Channels/chemistry,deficiency,genetics,physiology Potassium Channels, Voltage-Gated Protein Conformation Rats Sequence Alignment Sequence Homology, Amino Acid Shaker Superfamily of Potassium Channels Syndrome

Chemicals

Drosophila Proteins KCNA1 protein, human Kcna1 protein, mouse Potassium Channels Potassium Channels, Voltage-Gated Sh protein, Drosophila Shaker Superfamily of Potassium Channels Kv1.1 Potassium Channel

Authors & Affiliations

7 authors, click to expand affiliations / ORCID

Browne D L

Department of Biochemistry and Molecular Biology, Oregon Health Sciences University, Portland 97201.

Gancher S T

Nutt J G

Brunt E R

Smith E A

Kramer P

Litt M

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng1094-136

Published

1994-10-00

Pages

136-40

Language

English

Region

United States

NLM ID

9216904

Subset

Grants

NHGRI NIH HHS · HG00022 · United States

NINDS NIH HHS · NS25370 · United States

Databases

GENBANK

L02750, M17211, M26161, M30439

Corrections

CommentIn

PMID: 7531055

External Links

PubMed source DOI: 10.1038/ng1094-136 View journal details

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

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