Angelman综合征(AS)是以严重发育迟缓、智力低下、语言障碍、共济失调、癫痫发作、愉快表情为特征的神经遗传性疾病。成年AS患者生活质量低下，对家庭及社会造成极大负担。目前已知AS有4种基因型，不同基因型患者的临床表现存在差异。文章综述近年对AS发病机制、基因缺陷分型、治疗的研究进展。

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, speech impairment, gait ataxia, epileptic seizures, and exuberant behavior with happy demeanor. The majority of patients have poor quality of life and cause great burden to family and society. It is known that AS is caused by four genotypes which have different clinical manifestations. In this article, the recent advances in pathogenesis, the relationship between genotype and symptoms, and the treatment strategies of AS will be reviewed.