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]