Abstract
Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG
findings. We report here the results of long-term follow-up studies on the epileptic
seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis,
including seven cases previously reported by Matsumoto et al. in 1992. The age at
last follow-up in 23 patients was from 1 to 37 years of age (average: 18.0 years),
with 10 patients (43.5%) in their 20s, and five over 30. Epileptic seizures were seen
in all patients, and the age at seizure onset ranged from 3 to 50 months (average:
21.7 months). Status epilepticus was seen in 11 patients (47.8%). The percentages
of cases seizure-free for more than 3 years were 25% (4/16) at 10 years of age, 70%
(7/10) at 20, and 80% (4/5) at 30. The EEG findings were classified into six patterns
according to the previous report: N (no spike, including focal slow waves), HVS (diffuse
high-voltage slow bursts with or without spikes), F (focal spikes or multifocal spikes),
S (diffuse spike and waves), C (continuous diffuse spike and waves), Hy (hypsarrythmia
or hypsarrhythmia like waves). Hy was noted at ages 0–2 years in two cases. C was
observed from the ages 2 to 15 years, being most frequently noted at 3–6 years of
age, and it was never seen after 16 years of age. S was observed from ages 1 to 21
years. F was seen from 2 to 21 years of age, and most frequently during the ages of
2–7 years. HVS was seen from 0 years, and still remained after the age of 20. After
22 years of age, all patients showed N pattern including focal slow waves. One of
the two patients who had bilateral frontal dominant delta slow waves in their 30s,
had a recent seizure. Even if the spikes disappear with age, when bi-frontal focal
slow waves remain, seizures may occur even in patients over 30.
Keywords
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Article info
Publication history
Accepted:
January 6,
2004
Received in revised form:
January 5,
2004
Received:
September 16,
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
© 2005 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
