摘要
Angelman综合征是以发育迟滞、智力低下、运动障碍、语言落后、愉快表情、癫痫及异常脑电图等为特征的神经遗传性疾病。本病发病早期症状不典型,需注意识别。文章综述了近年对Angelman综合征的临床特征、泛素蛋白连接酶E3特征、基因遗传学特点、遗传咨询及诊疗。
Angelman syndrome is a neurodevelopmental disorder characterized by developmental delay,intellectual disability,dyskinesia,speech impairment,pleasant expression,epilepsy and abnormal electroencephalogram.The early symptoms of this disease are not typical,and attention should be paid to identification.In this article,the recent advances in clinical,ubiquitin-protein ligase E3A gene,genetic characteristics,genetic counseling and the treatment strategies of Angelman syndrome will be reviewed.
作者
程书欢
程亚颖
Cheng Shuhuan;Cheng Yaying(Department of Pediatrics,Hebei General Hospital,Shijiazhuang 050051,china)
出处
《中国综合临床》
2021年第1期93-96,共4页
Clinical Medicine of China
基金
河北省医学科学研究课题计划(20190296)。
