Abstract
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.
Keywords
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Article info
Publication history
Accepted:
September 23,
2003
Received in revised form:
September 22,
2003
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the Sixth Annual Meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
