title: Genetic models of focal epilepsies.
abstract: Focal epilepsies were for a long time thought to be acquired disorders secondary to cerebral lesions. However, the important role of genetic factors in focal epilepsies is now well established. Several focal epilepsy syndromes are now proven to be monogenic disorders. While earlier genetic studies suggested a strong contribution of ion channel and neurotransmitter receptor genes, later work has revealed alternative pathways, among which the mammalian target of rapamycin (mTOR) signal transduction pathway with DEPDC5. In this article, we provide an update on the mutational spectrum of neuronal nicotinic acetylcholine receptor genes (CHRNA4, CHRNB2, CHRNA2) and KCNT1 causing autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), and of LGI1 in autosomal dominant epilepsy with auditory features (ADEAF). We also emphasize, through a review of the current literature, the contribution of in vitro and in vivo models developed to unveil the pathogenic mechanisms underlying these two epileptic syndromes.
authors.affiliation: INSERM, U 1127, ICM, F-75013 Paris, France; CNRS, UMR 7225, ICM, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Boillot
authors.affiliation: INSERM, U 1127, ICM, F-75013 Paris, France; CNRS, UMR 7225, ICM, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address: stephanie.baulac@upmc.fr.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baulac
mesh_terms: D000818:Animals; D030801:Animals, Genetically Modified / Q000235:genetics*; D004195:Disease Models, Animal; D004828:Epilepsies, Partial / Q000503:physiopathology*; D005818:Genetic Engineering / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D007473:Ion Channels / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D017981:Receptors, Neurotransmitter / Q000235:genetics
chemical_list: D007473:Ion Channels; D009419:Nerve Tissue Proteins; D017981:Receptors, Neurotransmitter
keywords: CHRNA4; CHRNB2; Cellular and animal models; DEPDC5; Genetic focal epilepsies; KCNT1; LGI1