title: Seizures of idiopathic generalized epilepsies.
abstract: Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database. Generalized seizures occur with different and similar semiologies, frequencies, and patterns, ages at onset, and outcomes in different IGEs, suggesting common neuroanatomical pathways for seizure phenotypes. However, the same seizure phenotypes respond differently to the same treatments in different IGEs, suggesting different molecular defects across syndromes. De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood. Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology.
authors.affiliation: California Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA.
authors.forename: Reyna M
authors.initials: RM
authors.lastname: Durón
authors.forename: Marco T
authors.initials: MT
authors.lastname: Medina
authors.forename: Iris E
authors.initials: IE
authors.lastname: Martínez-Juárez
authors.forename: Julia N
authors.initials: JN
authors.lastname: Bailey
authors.forename: Katerina Tanya
authors.initials: KT
authors.lastname: Perez-Gosiengfiao
authors.forename: Ricardo
authors.initials: R
authors.lastname: Ramos-Ramírez
authors.forename: Minerva
authors.initials: M
authors.lastname: López-Ruiz
authors.forename: María Elisa
authors.initials: ME
authors.lastname: Alonso
authors.forename: Ramón H Castro
authors.initials: RH
authors.lastname: Ortega
authors.forename: Ignacio
authors.initials: I
authors.lastname: Pascual-Castroviejo
authors.forename: Jesús
authors.initials: J
authors.lastname: Machado-Salas
authors.forename: Lizardo
authors.initials: L
authors.lastname: Mija
authors.forename: Antonio V
authors.initials: AV
authors.lastname: Delgado-Escueta
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004829:Epilepsy, Generalized / Q000145:classification* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011379:Prognosis; D013577:Syndrome
chemical_list: D000927:Anticonvulsants