Childhood Absence Epilepsy: Genes, Channels, Neurons and Networks

Nat Rev Neurosci. 2002 May;3(5):371-82. doi: 10.1038/nrn811.

Abstract

Childhood absence epilepsy is an idiopathic, generalized non-convulsive epilepsy with a multifactorial genetic aetiology. Molecular-genetic analyses of affected human families and experimental models, together with neurobiological investigations, have led to important breakthroughs in the identification of candidate genes and loci, and potential pathophysiological mechanisms for this type of epilepsy. Here, we review these results, and compare the human and experimental phenotypes that have been investigated. Continuing efforts and comparisons of this type will help us to elucidate the multigenetic traits and pathophysiology of this form of generalized epilepsy.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Child
  • Epilepsy, Absence* / epidemiology
  • Epilepsy, Absence* / genetics
  • Epilepsy, Absence* / metabolism
  • Epilepsy, Absence* / physiopathology
  • Genes*
  • Humans
  • Ion Channels* / genetics
  • Ion Channels* / metabolism
  • Ion Channels* / physiology
  • Nerve Net* / physiology
  • Nerve Net* / physiopathology
  • Neurons* / metabolism
  • Neurons* / pathology
  • Neurons* / physiology
  • Phenotype

Substances

  • Ion Channels