Clinical and genetic aspects of idiopathic epilepsies in childhood.
The identification of the first genes associated with idiopathic epilepsy has been an important breakthrough in the field of epilepsy research. In almost all cases these genes were found to encode components of voltage- or ligand-gated ion channels or functionally related structures. For many other idiopathic syndromes, there is linkage evidence to one or more chromosomes, but the genes have not yet been identified. Identification of the responsible genes and their gene products will further increase the knowledge of the pathogenic mechanisms involved in epilepsy, and will hopefully facilitate the development of drug targets for the effective treatment of epilepsy. This review gives an overview of the clinical characteristics and an update of genetic research of those idiopathic childhood epilepsies for which genes have been identified and the monogenic idiopathic childhood epilepsies for which mapping data are available.
Callenbach
Petra M C
PM
Department of Neurology, University Medical Centre Groningen, Hanzeplein 1/P.O. Box 30001, 9700 RB Groningen, The Netherlands.
van den Maagdenberg
Arn M J M
AM
Frants
Rune R
RR
Brouwer
Oebele F
OF
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn