Channelpedia

PubMed 8871592


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Kv1.1



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

Authors: S Comu, M Giuliani, V Narayanan

Journal, date & volume: Ann. Neurol., 1996 Oct , 40, 684-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/8871592


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.