Channelopathies can cause epilepsy in man.
Idiopathic epilepsies, which account for up to 40% of all epilepsies, are mainly caused by genetic factors. Most idiopathic epilepsies are due to oligogenic or multifactorial rather than monogenetic inheritance. Nevertheless, most of what is known today about the molecular genetics of idiopathic epilepsies has been found by analysing large families with rare monogenetic forms of the disease. For the first time, gene defects can be linked to certain epilepsies. Mutations in the CHRNA4 or CHRNB subunits of the neuronal nicotinic acetylcholine receptor lead to familial nocturnal frontal lobe epilepsy, while defects in the voltage-gated potassium channels KCNQ2 and KCNQ3 have recently been found to cause benign familial neonatal convulsions. The voltage-gated sodium channel subunits SCN1B, SCN1A and SCN2A as well as the GABRG2 subunit of the GABA(A) receptor are involved in the pathology of the newly described syndrome generalized epilepsy with febrile seizures plus. These rare monogenetic epilepsies can serve as models for further genetic analysis of the common forms of idiopathic epilepsies.
Steinlein
Ortrud K
OK
Institute of Human Genetics, Friedrich-Wilhelms-University of Bonn, Wilhelmstrasse 31, D 53111 Bonn, Germany. Ortrud.Steinlein@ukb.uni-bonn.de
D000818:Animals; D002490:Central Nervous System / Q000378:metabolism / Q000503:physiopathology*; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology*; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000502:physiology; D009474:Neurons / Q000378:metabolism*; D017981:Receptors, Neurotransmitter / Q000235:genetics* / Q000378:metabolism; D009435:Synaptic Transmission / Q000235:genetics*
D007473:Ion Channels; D017981:Receptors, Neurotransmitter