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

Epileptic Disord. 2005 Sep;7(3):227-30.

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].

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Angelman Syndrome / complications
  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics
  • Epilepsy, Absence / diagnosis*
  • Epilepsy, Absence / etiology
  • Humans
  • Male
  • Mutation
  • Ubiquitin-Protein Ligases / genetics

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases