title: Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.
abstract: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was the first epilepsy in humans that could be linked to specific mutations. It had been initially described as a channelopathy due to the fact that for nearly two decades mutations were exclusively found in subunits of the nicotinic acetylcholine receptor. However, newer findings demonstrate that the molecular pathology of ADNFLE is much more complex insofar as this rare epilepsy can also be caused by genes coding for non-ion channel proteins. It is becoming obvious that the different subtypes of focal epilepsies are not strictly genetically separate entities but that mutations within the same gene might cause a clinical spectrum of different types of focal epilepsies.
authors.affiliation: Institute of Human Genetics, University Hospital, Ludwig-Maximilians-University, Munich, Germany. Electronic address: ortrud.steinlein@med.uni-muenchen.de.
authors.forename: Ortrud K
authors.initials: OK
authors.lastname: Steinlein
mesh_terms: D017034:Epilepsy, Frontal Lobe / Q000235:genetics*; D018740:Genetic Heterogeneity; D006801:Humans; D009154:Mutation
keywords: ADNFLE; DEPDC5; KCNT1; acetylcholine receptor; epileptic encephalopathy; nocturnal frontal lobe epilepsy