title: Childhood absence epilepsy with clinically apparent genetic and acquired burdens: a diagnostic consideration.
abstract: Both genetic and acquired factors play important roles in the development of childhood absence epilepsy. This article describes a girl with mental retardation, probably due to a perinatal complication, who had typical absence seizures with characteristic electroencephalographic findings of childhood absence epilepsy, including normal background activity. This patient was subsequently found to have a strong genetic predisposition, which was suggested by the fact that childhood absence epilepsy also developed in her younger brother. Except for the mental subnormality, the electroclinical features of this patient satisfied the diagnostic criteria for childhood absence epilepsy. This case raises the question about diagnostic consideration of childhood absence epilepsy in association with cerebral pathology for genetically predisposed individuals.
authors: Department of Pediatrics, Ehime Prefecture Central Hospital, Matsuyama City, Japan. c-hwakamoto@eph.pref.ehime.jp
authors: Hiroyuki
authors: H
authors: Wakamoto
mesh_terms: D000200:Action Potentials / Q000502:physiology; D000927:Anticonvulsants / Q000627:therapeutic use; D001720:Birth Injuries / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology*; D015984:Causality; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D017281:Cost of Illness; D003937:Diagnosis, Differential; D004569:Electroencephalography; D004832:Epilepsy, Absence / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005013:Ethosuximide / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D005013:Ethosuximide; D014635:Valproic Acid