Implications of slow waves and shifting epileptiform discharges in Angelman syndrome.
OBJECTIVE
Angelman syndrome is a genetic syndrome resulted from a lack of UBE3A gene expression of the maternally inherited abnormalities of chromosome 15q11-q13. About 90% of patients with Angelman syndrome experience epilepsy and its distinctive electroencephalographic changes. Epilepsy predominates in childhood, but may persist in adulthood. The seizure types may be quite varied and sometimes difficult to control.


METHODS
We retrospectively reviewed and analyzed data of 18 patients with genetically and clinically confirmed Angelman syndrome at Asan Medical Center.


RESULTS
An analysis of 53 electroencephalography (EEG) records from 18 patients showed that diffuse slow-wave background patterns were significantly associated with uncontrolled periods of epilepsy. Moreover, epileptiform discharges tended to shift from posterior to anterior head regions over time after an initial normal pattern at a young age.


CONCLUSIONS
Children with Angelman syndrome follow general developmental patterns, with specific patterns of EEG reflecting the maturational pattern of the brain and epileptic activity.
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Mi-Sun
MS
Yum
Eun Hye
EH
Lee
Joo-Hyun
JH
Kim
Tae-Sung
TS
Ko
Han-Wook
HW
Yoo
D017668:Age of Onset; D017204:Angelman Syndrome / Q000235:genetics / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004827:Epilepsy / Q000503:physiopathology*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D012189:Retrospective Studies; D012640:Seizures / Q000503:physiopathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics; D055517:snRNP Core Proteins / Q000235:genetics
D055517:snRNP Core Proteins; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases