Angelman综合征脑电图特点的研究进展

Reseach progress of electroencephalogram features of Angelman syndrome

Angelman综合征又称快乐木偶综合征，是由英国科学家于1965年首次提出，是一种染色体缺陷病，主要是由母源染色体15q11—13上的UBF-3A基因缺失或表达异常导致，患者常伴有精神运动发育落后及特殊面容，90％患儿伴有癫痫发作，并且具有特征性的脑电图表现，一般预后较差；Angelman综合征的诊断依据主要是靠分子遗传学检测，但有些患儿基因检测可无异常，需依据病史及特征性脑电图进行临床诊断。脑电图异常也可在表现出突出临床症状及基因检测确诊之前提示该病，从而提高该病的早期检出率。该文主要是对近几年Angelman综合征脑电图特点的研究进展进行综述。

Angelman syndrome is also called happy puppet syndrome. It is firstly reported by British sci- entist in 1965. It is a chromosome disorder disease, mainly of chromosome 15ql 1-13 regional anomaly. The An- gelman 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 syn- drome 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 syn- drome in advance, thereby improving the early detection rate of the disease. This review is mainly to summarize the electroencephalogram pattems in Angelman syndrome in recent years.