Epileptic Disorders
MENUAtypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation Volume 7, numéro 3, September 2005
Auteurs
Department of Neurology, The Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
- Mots-clés : Angelman syndrome, UBE3A mutation, non-convulsive status epilepticus, absence status
- Page(s) : 227-30
- Année de parution : 2005
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]