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KMID : 1101320100420020097
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Korean Journal of Clinical Laboratory Science
2010 Volume.42 No. 2 p.97 ~ p.102
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A Characteristic EEG Pattern of Angelman Syndrome
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Yoon Joong-Soo
Song Woon-Heung
Choi Hwa-Sik
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Abstract
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The two new female cases of Angelman syndrome (AS) were described, which diagnosed on the basis of clinical features (dysmorphic facial features, severe mental retardation with absent speech, peculiar jerky movements, ataxic gait and paroxysms of inappropriate laughter) and neurophysiological findings. Failure to detect the deletion of the long arm of chromosome 15 or the absence of epileptic seizure were not considered sufficient to exclude a diagnosis of AS. Feeding problems, developmental delay and early signs of ataxia, especially tremor on handling objects and unstable posture when seated, proved effective as the clinical markers for early diagnosis of AS. Most of the authors agreed about the existence of three main EEG patterns in AS which may appear in isolation or in various combinations in the same patient. The most frequently observed pattern in children has prolonged runs of high amplitude rhythmic 2-3 Hz activity predominantly over the frontal region 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. The EEG findings are characteristic of AS when seen in the appropriate clinical context and can be helpful to identify AS patients at an early age when genetic counselling may be particularly important.
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KEYWORD
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Angelman syndrome, Epilepsy, Chromosome 15q-llq13 deletion, EEG
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