Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
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Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Nat Genet. 1994 Oct;8(2):136-40.
- PubMed ID
- 7842011 [ View in PubMed]
- 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.