Childhood absence epilepsy: genes, channels, neurons and networks.
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.
Crunelli
Vincenzo
V
School of Bioscience, Cardiff University, Museum Avenue, Cardiff CF10 3US, Wales, UK. crunelli@cardiff.ac.uk
Leresche
Nathalie
N
D000818:Animals; D002648:Child; D004832:Epilepsy, Absence / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D005796:Genes; D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D009415:Nerve Net / Q000502:physiology / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology / Q000502:physiology; D010641:Phenotype
D007473:Ion Channels