Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.
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].
Espay
Alberto J
AJ
Department of Neurology, The Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
Andrade
Danielle M
DM
Wennberg
Richard A
RA
Lang
Anthony E
AE
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
C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases