Document Detail

Angelman syndrome: is there a characteristic EEG?
MedLine Citation:
PMID:  15668045     Owner:  NLM     Status:  MEDLINE    
Angelman syndrome (AS) is a genetic disorder characterised by severe mental retardation, subtle dysmorphic facial features, a characteristic behavioural phenotype, epileptic seizures and EEG abnormalities. AS can be caused by various genetic mechanisms involving the chromosome 15q11-13 region. Neurophysiological studies report a variety of EEG abnormalities seen in AS patients. The objective of this article was to analyse whether there are characteristic EEG changes in AS, whether this varies with age and what the differential diagnosis is. Most of the authors agree about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The pattern most frequently observed both in children and in adults has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal regions with superimposed interictal epileptiform discharges. High amplitude rhythmic 4-6 Hz activity, prominent in the occipital regions, with spikes, which can be facilitated by eye closure, is often seen in children under the age of 12 years. There is no difference in EEG findings in AS patients with or without epileptic seizures. AS patients with a deletion of chromosome 15q11-13 have more prominent EEG abnormalities than patients with other genetic disturbances of the chromosome 15 region. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can help to identify AS patients at an early age when genetic counselling may be particularly important.
Laura A E M Laan; Alla A Vein
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Brain & development     Volume:  27     ISSN:  0387-7604     ISO Abbreviation:  Brain Dev.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-01-25     Completed Date:  2005-08-02     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  80-7     Citation Subset:  IM    
Department of Neurology and Clinical Neurophysiology, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
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MeSH Terms
Age Factors
Angelman Syndrome / physiopathology*
Diagnosis, Differential

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