Chronic neuromyotonia as a phenotypic variation associated with a new mutation in the KCNA1 gene.
Poujois
A
A
Antoine
J-Ch
JC
Combes
A
A
Touraine
R L
RL
D000328:Adult; D001259:Ataxia / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics; D005838:Genotype; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics; D020386:Isaacs Syndrome / Q000235:genetics* / Q000503:physiopathology; D051662:Kv1.1 Potassium Channel / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype
D005819:Genetic Markers; D051662:Kv1.1 Potassium Channel