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

Authors
  • Espay, Alberto J
  • Andrade, Danielle M
  • Wennberg, Richard A
  • Lang, Anthony E
Type
Published Article
Journal
Epileptic disorders : international epilepsy journal with videotape
Publication Date
Sep 01, 2005
Volume
7
Issue
3
Pages
227–230
Identifiers
PMID: 16162432
Source
Medline
License
Unknown

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].

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