title: Genetics of epilepsy and relevance to current practice.
abstract: Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.
authors.affiliation: Unit of Neurology, IRCCS Institute of Neurological Sciences, Bellaria Hospital, Via Altura 3, 40139, Bologna, Italy. roberto.michelucci@ausl.bo.it
authors.forename: Roberto
authors.initials: R
authors.lastname: Michelucci
authors.forename: Elena
authors.initials: E
authors.lastname: Pasini
authors.forename: Patrizia
authors.initials: P
authors.lastname: Riguzzi
authors.forename: Lilia
authors.initials: L
authors.lastname: Volpi
authors.forename: Emanuela
authors.initials: E
authors.lastname: Dazzo
authors.forename: Carlo
authors.initials: C
authors.lastname: Nobile
mesh_terms: D000818:Animals; D004827:Epilepsy / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype