title: Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
abstract: Rare multiplex families with autosomal dominant focal epilepsies have been described with specific age-related and electroclinical syndromes: autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), familial temporal lobe epilepsy (FTLE), and familial focal epilepsy with variable foci (FFEVF). Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF). This chapter focuses on DEPDC5, a newly identified gene.
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, UM 75, Paris, France; INSERM, U1127, Paris, France; CNRS, UMR 7225, Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. Electronic address: stephanie.baulac@upmc.fr.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Baulac
mesh_terms: D004828:Epilepsies, Partial / Q000235:genetics*; D020690:GTPase-Activating Proteins; D006801:Humans; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C000590398:DEPDC5 protein, human; D020690:GTPase-Activating Proteins; D012097:Repressor Proteins
keywords: DEPDC5; LGI1; acetylcholine nicotinic receptor; autosomal dominant; focal epilepsies; genetic; mTOR; variable foci