title: Monogenic idiopathic epilepsies.
abstract: Major advances have recently been made in our understanding of the genetic bases of monogenic inherited epilepsies. Direct molecular diagnosis is now possible in numerous inherited symptomatic epilepsies. Progress has also been spectacular with respect to several idiopathic epilepsies that are caused by mutations in genes encoding subunits of ion channels or neurotransmitter receptors. Although these findings concern only a few families and sporadic cases, their potential importance is great, because these genes are implicated in a wide range of more common epileptic disorders and seizure types as well as some rare syndromes. Functional studies of these mutations, while leading to further progress in the neurobiology of the epilepsies, will help to refine genotype-phenotype relations and increase our understanding of responses to antiepileptic drugs. In this article, we review the clinical and genetic data on most of the idiopathic human epilepsies and epileptic contexts in which the association of epilepsy and febrile convulsions is genetically determined.
authors.affiliation: Unité d'Epileptologie, Assistace Publique Hôpitaux, and INSERM U 289, Hôpital de la Pitié-Salpêtrière, Paris, France. isabelle.an@psl.ap-hop-paris.fr
authors.forename: Isabelle
authors.initials: I
authors.lastname: Gourfinkel-An
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baulac
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.forename: Merle
authors.initials: M
authors.lastname: Ruberg
authors.forename: Michel
authors.initials: M
authors.lastname: Baulac
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Eric
authors.initials: E
authors.lastname: LeGuern
mesh_terms: D000818:Animals; D000927:Anticonvulsants / Q000627:therapeutic use; D004827:Epilepsy / Q000145:classification / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics; D004833:Epilepsy, Temporal Lobe / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000737:chemistry / Q000187:drug effects / Q000235:genetics*; D009154:Mutation; D017981:Receptors, Neurotransmitter / Q000737:chemistry / Q000187:drug effects / Q000235:genetics*; D003294:Seizures, Febrile / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D007473:Ion Channels; D017981:Receptors, Neurotransmitter