Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem

Hum Mutat. 2000 Oct;16(4):374. doi: 10.1002/1098-1004(200010)16:4<374::AID-HUMU15>3.0.CO;2-4.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia / genetics*
  • Humans
  • Isoleucine / genetics
  • Kv1.1 Potassium Channel
  • Leucine / genetics
  • Mutation, Missense / genetics*
  • Point Mutation / genetics
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*

Substances

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