Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation

Neurology. 2004 Sep 28;63(6):1136-7. doi: 10.1212/01.wnl.0000138571.48593.fc.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Age of Onset
  • Amino Acid Substitution*
  • Calcium Channels / genetics
  • Calcium Channels / physiology*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Disease Progression
  • Epilepsy, Complex Partial / genetics*
  • Exons / genetics
  • Female
  • Haplotypes / genetics
  • Heterozygote
  • Humans
  • Male
  • Migraine with Aura / genetics*
  • Migraine without Aura / genetics
  • Mutation, Missense*
  • Pedigree
  • Point Mutation*
  • Spinocerebellar Degenerations / genetics*
  • Sweden

Substances

  • CACNA1A protein, human
  • Calcium Channels