Gene defects in idiopathic epilepsy.
Idiopathic epilepsies are mainly due to genetic factors. In most cases the mode of inheritance is either oligogenic or multifactorial. Only a few rare idiopathic epilepsies are single gene disorders. Monogenic epilepsies offer the chance to identify genes/gene families which might also be involved in the aetiology of common forms of the disease. The genetic basis of two monogenic epilepsies have recently been identified: autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions.
Steinlein
O K
OK
Institute of Human Genetics, Bonn, Germany. steinlein@snphysio2.wilhelm.uni-bonn.de
D002890:Chromosomes, Human, Pair 20; D004827:Epilepsy / Q000235:genetics*; D017034:Epilepsy, Frontal Lobe / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D011978:Receptors, Nicotinic / Q000235:genetics*; D012640:Seizures / Q000235:genetics
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011978:Receptors, Nicotinic