EPISODIC ATAXIA AND MYOKYMIA SYNDROME - A NEW MUTATION OF POTASSIUM CHANNEL GENE KV1.1

Episodic ataxia aad myokymia syndrome is an autosomal dominant disorde r characterized by persistent myokymia and attacks of unsteadiness, sl urred 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 ge ne in a newly diagnosed family.