User Visitor Login
/images/graph_sv_i.gif
English only
EPFL > FSV > BBP > Channelpedia
Ion channels
References
Reports
SEARCH IN WIKI
Logged in as a Visitor.

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

S Comu, M Giuliani, V Narayanan

Ann. Neurol., 1996 Oct , 40, 684-7

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.

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