New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies.
For many years, idiopathic epilepsies have been known to have a strong genetic background. In most subtypes, the mode of inheritance appears to be complex, with only some rare idiopathic epilepsies being monogenic disorders. Thus far, several gene loci have been reported for the common subtypes, such as juvenile myoclonic epilepsy, but the results of linkage studies in independent samples have often been conflicting. Recently, the gene defects underlying two monogenic epilepsies, autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions, have been identified. Both diseases are caused by ion channel mutations, a similarity which may shed light on the understanding of the basic mechanisms of epileptogenesis.
Steinlein
O K
OK
Institute for Human Genetics, University of Bonn, Germany. steinlein@snphysio2.wilhelm.uni-bonn.de
D004827:Epilepsy / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D013036:Spasms, Infantile / Q000235:genetics