title: Recent developments in the quest for myoclonic epilepsy genes.
abstract: Understanding the latest advances in the molecular genetics of the epilepsies is important, as it provides a basis for comprehending the new practice of epileptology. Epilepsies have traditionally been classified and subtyped on the basis of clinical and neurophysiologic concepts. However, the complexity and variability of phenotypes and overlapping clinical features limit the resolution of phenotype-based classification and confound epilepsy nosology. Identification of tightly linked epilepsy DNA markers and discovery of epilepsy-causing mutations provide a basis for refining the classification of epilepsies. Recent discoveries regarding the genetics surrounding certain epilepsy types (including Lafora's progressive myoclonic epilepsy, the severe myoclonic epilepsy of infancy of Dravet, and idiopathic generalized epilepsies) may be the beginning of a better understanding of how rare Mendelian epilepsy genes and their genetic architecture can explain some complexities of the common epilepsies.
authors.affiliation: Epilepsy Genetics/Genomics Laboratory, Comprehensive Epilepsy Program, UCLA School of Medicine and VA GLAHS Epilepsy Center of Excellence, Los Angeles, California, U.S.A. escueta@ucla.edu
authors.forename: Antonio V
authors.initials: AV
authors.lastname: Delgado-Escueta
authors.forename: Katerina B
authors.initials: KB
authors.lastname: Perez-Gosiengfiao
authors.forename: Dongsheng
authors.initials: D
authors.lastname: Bai
authors.forename: Julia
authors.initials: J
authors.lastname: Bailey
authors.forename: Marco T
authors.initials: MT
authors.lastname: Medina
authors.forename: Ryoji
authors.initials: R
authors.lastname: Morita
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Subramaniam
authors.initials: S
authors.lastname: Ganesh
authors.forename: Toshihisa
authors.initials: T
authors.lastname: Sugimoto
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamakawa
authors.forename: Adriana
authors.initials: A
authors.lastname: Ochoa
authors.forename: A
authors.initials: A
authors.lastname: Jara-Prado
authors.forename: Astrid
authors.initials: A
authors.lastname: Rasmussen
authors.forename: J
authors.initials: J
authors.lastname: Ramos-Peek
authors.forename: Sergio
authors.initials: S
authors.lastname: Cordova
authors.forename: Francisco
authors.initials: F
authors.lastname: Rubio-Donnadieu
authors.forename: Maria Elisa
authors.initials: ME
authors.lastname: Alonso
mesh_terms: D004831:Epilepsies, Myoclonic / Q000145:classification / Q000235:genetics*; D006801:Humans