Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26/06/2006
Symbol EA1
Location 12p13.32
Name episodic ataxia, type 1
Other name(s)
  • episodic ataxia with myokymia . paroximal ataxia with neuromyotonia, hereditary
  • Corresponding gene KCNA1
    Other symbol(s) AEMK, AEM
    Main clinical features
  • dysarthria and spontaneous repetitive discharges in distal musculature (myokymia) and sometimes with partial epilepsy
  • Genetic determination autosomal dominant
    Related entries . including cases characterized by myokymia and epilepsy without ataxia episodes or myokymia only
    Function/system disorder neuromuscular
    neurology
    Type disease
    Gene product
    Name potassium voltage-gated channel 1 (KCNA1),point mutation(s)