[Genetic background of epilepsies].
In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.
Kelemen
Anna
A
Országos Pszichiátriai és Neurológiai Intézet, Budapest. kelemenanna@hotmail.com
Szucs
Anna
A
Rásonyi
György
G
Janszky
József
J
Holló
András
A
Halász
Péter
P
D041321:Chromosomes, Human, X; D004827:Epilepsy / Q000235:genetics* / Q000628:therapy; D020936:Epilepsy, Benign Neonatal / Q000235:genetics; D004833:Epilepsy, Temporal Lobe / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D051658:KCNQ2 Potassium Channel; D051659:KCNQ3 Potassium Channel; D008297:Male; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D011950:Receptors, Cholinergic / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D051659:KCNQ3 Potassium Channel; C496916:KCNQ3 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011950:Receptors, Cholinergic; D011963:Receptors, GABA-A