安吉曼综合征
医学
癫痫
疾病
脑电图
儿科
15号染色体
染色体
精神科
遗传学
病理
生物
基因
出处
期刊:International Journal of Pediatrics
日期:2017-11-26
卷期号:44 (11): 780-782
标识
DOI:10.3760/cma.j.issn.1673-4408.2017.11.013
摘要
Angelman syndrome is also called happy puppet syndrome.It is firstly reported by British scientist in 1965.It is a chromosome disorder disease, mainly of chromosome 15q11-13 regional anomaly.The Angelman syndrome patients are often accompanied by mental retardation and special features, 90% with epilepsy and the specific electroencephalogram patterns, and the prognosis is unfavorable.The diagnosis of Angelman syndrome depends mainly on genetic testing, but some patients with genetic testing may show no abnormalities, these patients need referring the clinical diagnosis and the distinctive electroencephalogram.Before the distinctive clinical manifestation and genetic testing, the abnormal electroencephalogram can help diagnose Angelman syndrome in advance, thereby improving the early detection rate of the disease.This review is mainly to summarize the electroencephalogram patterns in Angelman syndrome in recent years.
Key words:
Angelman syndrome; electroencephalogram; Epilepsy
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