Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
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.
Comu
S
S
Department of Pediatrics, University of Pittsburgh, PA, USA.
Giuliani
M
M
Narayanan
V
V
D001259:Ataxia / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002881:Chromosomes, Human, Pair 12; D017931:DNA Primers; D005207:Fasciculation / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D015221:Potassium Channels / Q000235:genetics*
D017931:DNA Primers; D015221:Potassium Channels