John Libbey Eurotext

Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation Volume 7, numéro 3, September 2005

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  • Atypical absence and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation

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Auteurs
Department of Neurology, The Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada

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]