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The Causes of Epilepsy The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
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Chapter 28 - Angelman syndrome

from Section 3 - Symptomatic epilepsy

Published online by Cambridge University Press:  05 March 2012

Simon D. Shorvon
Affiliation:
National Hospital for Neurology and Neurosurgery, London
Frederick Andermann
Affiliation:
Montreal Neurological Hospital and Institute
Renzo Guerrini
Affiliation:
Child Neurology Unit, Meyer Pediatric Hospital, Florence
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Summary

Angelman syndrome is characterized by developmental delay, absence of speech, motor impairment, epilepsy, and a peculiar behavioral phenotype with happy demeanor. It is caused by lack of expression of the UBE3A gene, which can result from various abnormalities of chromosome 15q11-q13. Interictal high-amplitude rhythmic electroencephalographic (EEG) patterns are distinctive and should be differentiated from epileptic activity. Patterns of seizures, including type, age of onset, other clinical features, and EEG features of patients with Angelman syndrome may show some resemblance to defined epileptic syndromes. Correct characterization of their epilepsy is therefore important for both management and prognosis. Surveys of antiepileptic drugs used in patients with Angelman syndrome have suggested that valproic acid is the most commonly used. Non-pharmacological management is rarely considered, despite the relatively high prevalence of drug resistance. Ketogenic diet has been effective in a few cases.
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The Causes of Epilepsy
Common and Uncommon Causes in Adults and Children
, pp. 201 - 205
Publisher: Cambridge University Press
Print publication year: 2011

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