A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood

J Med Genet. 2004 Aug;41(8):621-8. doi: 10.1136/jmg.2003.017863.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • DNA Mutational Analysis / methods
  • Female
  • Haplotypes / genetics
  • Hemiplegia / genetics*
  • Hemiplegia / pathology
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Sodium-Potassium-Exchanging ATPase / genetics*
  • Sodium-Potassium-Exchanging ATPase / physiology

Substances

  • ATP1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase

Associated data

  • OMIM/125310
  • OMIM/141500
  • OMIM/252350
  • OMIM/602481