title: Genetics of pediatric epilepsy.
abstract: As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause different epilepsy syndromes, making identification of the specific mutation increasingly more important for prognostication and often more directed treatment. Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Duke Children's Hospital and Health Center, Suite T0913J, 2301 Erwin Road, Durham, NC 27710, USA.
authors.forename: Abeer J
authors.initials: AJ
authors.lastname: Hani
authors.affiliation: Center of Human Genome Variation, LSRC, Duke University School of Medicine, 201 Trent Drive, Durham, NC 27710, USA.
authors.forename: Husam M
authors.initials: HM
authors.lastname: Mikati
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Duke Children's Hospital and Health Center, Suite T0913J, 2301 Erwin Road, Durham, NC 27710, USA. Electronic address: mohamad.mikati@duke.edu.
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
keywords: Children; Epilepsy; Epilepsy syndromes; Genetics