title: Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.
abstract: Angelman syndrome is a neurogenetic disorder resulting in refractory epilepsy and profound psychomotor retardation in its most prevalent form, caused by deletion of maternal chromosome 15q11-13. We report the case of a 29-year-old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of the usually milder, drug-responsive epilepsy associated with Angelman syndrome due to the UBE3A mutation.[Published with video sequences].
authors.affiliation: Department of Neurology, The Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Alberto J
authors.initials: AJ
authors.lastname: Espay
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade
authors.forename: Richard A
authors.initials: RA
authors.lastname: Wennberg
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
mesh_terms: D000328:Adult; D017204:Angelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004832:Epilepsy, Absence / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D008297:Male; D009154:Mutation; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases