Progress of Angelman syndrome
10.3760/cma.j.cn101721-20200516-00010
- VernacularTitle:Angelman综合征的研究进展
- Author:
Shuhuan CHENG
;
Yaying CHENG
- From:
Clinical Medicine of China
2021;37(1):93-96
- CountryChina
- Language:Chinese
-
Abstract:
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.
