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KMID : 0391520030110020377
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Journal of the Korean Child Neurology Society
2003 Volume.11 No. 2 p.377 ~ p.384
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A Case of Angelman Syndrome with Left Hemicortical Atrophy.
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Kim Hyo-Soo
Jin Young-A
Yoo Eun-Gyong
Chae Kyu-Young
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Abstract
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Angelman syndrome is a neurogenetic disorder which results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 presenting with various neurodevelopmental problems. We report a 3 year-old-girl who had severe developmental delay, speech impairment, ataxic gait, jerky movement and recurrent seizures with abnormal EEG, characteristic pattern with high amplitude slow spike-and-wave discharge on the bifrontal region. The patient was genetically confirmed Angelman syndrome who had two episode of status epilepticus with cortical atrophic changes on her left hemisphere. Angelman syndrome should be suspected in differential diagnosis in infant who has severe speech and developmental delay, tremulous movement accompanied by cryptogenic seizure disorders including characteristic EEG features.
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KEYWORD
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Angelman syndrome, Brain cortical atrophy, EEG
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