title: [Research advances in molecular genetics of epilepsies].
abstract: Last years brought a large number of papers shedding light on the molecular and genetic background of epilepsy. The aim of the present work was to review recent literature concerning this issue. In the first section, the authors presented biochemical and functional characteristics of receptors and ion channels. Mutations in their genes can lead to epileptic seizure development. Particularly, the role of GABA receptors as well as voltage-gated sodium, calcium and potassium channels in epilepsy pathogenesis was discussed. The second part of the work focuses on clinical implications of these receptors and channels disturbances. Epileptic syndromes with proved genetic defect are presented on the basis of recent literature and OMIM (Online Mendelian Inheritance in Man) database. The authors point out that reviewed results show vast heterogeneity of many known epileptic syndromes. On the other hand, defects in the same locus can result in heterogeneous phenotypes. This can indicate multifactorial pathogenesis of epilepsy and implicate further revision of epilepsies and epileptic seizures classification.
authors.affiliation: Klinika Neurologii i Epileptologii, Instytut Pomnik-Centrum Zdrowia Dziecka, al. Dzieci Polskich 20, 04-736 Warszawa. jozwiak@czd.waw.pl
authors.forename: Sergiusz
authors.initials: S
authors.lastname: Jóźwiak
authors.forename: Władysław
authors.initials: W
authors.lastname: Lasoń
authors.forename: Maria
authors.initials: M
authors.lastname: Bijak
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Katulska
mesh_terms: D015220:Calcium Channels / Q000235:genetics / Q000502:physiology; D018118:Chloride Channels / Q000235:genetics / Q000502:physiology; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000502:physiology; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics / Q000502:physiology; D018079:Receptors, GABA / Q000235:genetics / Q000502:physiology; D011978:Receptors, Nicotinic / Q000235:genetics / Q000502:physiology; D015222:Sodium Channels / Q000235:genetics / Q000502:physiology
chemical_list: D015220:Calcium Channels; D018118:Chloride Channels; D007473:Ion Channels; D024642:Potassium Channels, Voltage-Gated; D018079:Receptors, GABA; D011978:Receptors, Nicotinic; D015222:Sodium Channels