A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine

Clin Genet. 2004 Jan;65(1):70-2. doi: 10.1111/j..2004.00187.x.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Arginine
  • Calcium Channels / genetics*
  • Calcium Channels / physiology*
  • Cerebellar Ataxia / genetics*
  • Child
  • DNA Mutational Analysis
  • Exons
  • Female
  • Hemiplegia
  • Humans
  • Male
  • Migraine Disorders / genetics*
  • Pedigree
  • Point Mutation*

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • Arginine