Association between genetic variation of CACNA1H and childhood absence epilepsy

Ann Neurol. 2003 Aug;54(2):239-43. doi: 10.1002/ana.10607.


Direct sequencing of exons 3 to 35 and the exon-intron boundaries of the CACNA1H gene was conducted in 118 childhood absence epilepsy patients of Han ethnicity recruited from North China. Sixty-eight variations have been detected in the CACNA1H gene, and, among the variations identified, 12 were missense mutations and only found in 14 of the 118 patients in a heterozygous state, but not in any of 230 unrelated controls. The identified missense mutations occurred in the highly conserved residues of the T-type calcium channel gene. Our results suggest that CACNA1H might be an important susceptibility gene involved in the pathogenesis of childhood absence epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Amino Acid Substitution
  • Calcium Channels, T-Type / genetics*
  • Child
  • Child, Preschool
  • China
  • DNA / genetics
  • Electroencephalography
  • Epilepsy, Absence / genetics*
  • Exons / genetics
  • Female
  • Genetic Variation
  • Humans
  • Male
  • Mutation, Missense / genetics
  • Mutation, Missense / physiology
  • Reverse Transcriptase Polymerase Chain Reaction


  • CACNA1H protein, human
  • Calcium Channels, T-Type
  • DNA