Elsevier

Seizure

Volume 17, Issue 3, April 2008, Pages 211-217
Seizure

Review
Epilepsy in Angelman syndrome

https://doi.org/10.1016/j.seizure.2007.08.004Get rights and content
Under an Elsevier user license
open archive

Summary

Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In addition to severe developmental delay, virtual absence of speech, motor impairment, a behavioural phenotype that includes happy demeanour, and distinctive rhythmic electroencephalographic features, over 90% of patients have epilepsy. Many different seizure types may occur, atypical absences and myoclonic seizures being particularly prevalent. Non-convulsive status epilepticus is common, sometimes in the context of the epileptic syndrome referred to as myoclonic status in non-progressive encephalopathies. Epilepsy predominates in childhood, but may persist or reappear in adulthood. Management is difficult in a proportion of patients. It might be improved by better understanding of pathophysiology. Current hypotheses involve abnormal inhibitory transmission due to impaired regulation of GABAA receptors related to functional absence of UBE3A and abnormal hippocampal CaMKII activity.

Keywords

Angelman syndrome
Epilepsy
UBE3A
GABA
Status epilepticus

Cited by (0)