Three novel KCNA1 mutations in episodic ataxia type I families

Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722.


Hereditary paroxysmal ataxia, or episodic ataxia (EA), is a rare, genetically heterogeneous neurological disorder characterized by attacks of generalized ataxia. By direct sequence analysis, a different missense mutation of the potassium channel gene (KCNA1) has been identified in three families with EA.

MeSH terms

  • Amino Acid Substitution / genetics
  • Ataxia / genetics*
  • Chromosomes, Human, Pair 12 / genetics
  • Female
  • Heterozygote
  • Humans
  • Kv1.1 Potassium Channel
  • Male
  • Pedigree
  • Point Mutation / genetics*
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*


  • KCNA1 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • Kv1.1 Potassium Channel