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Ann Neurol. 1996 Oct;40(4):684-7.

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.

Author information

1
Department of Pediatrics, University of Pittsburgh, PA, USA.

Abstract

Episodic ataxia and myokymia syndrome is an autosomal dominant disorder characterized by persistent myokymia and attacks of unsteadiness, slurred speech, and tremulousness. This disease has been associated with point mutations in the potassium channel gene Kv1.1 (KCNA1), located at chromosome 12p13. Here, we describe a novel mutation within this gene in a newly diagnosed family.

PMID:
8871592
DOI:
10.1002/ana.410400422
[Indexed for MEDLINE]

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