Progress on the treatment of Angelman syndrome
10.3760/cma.j.issn.1673-4408.2025.03.004
- VernacularTitle:Angelman综合征的治疗研究进展
- Author:
Yuxi WANG
1
;
Min ZHONG
Author Information
1. 重庆医科大学附属儿童医院康复科 国家儿童健康与疾病临床医学研究中心 儿童发育疾病研究教育部重点实验室 儿童神经发育与认知障碍重庆市重点实验室 400014
- Keywords:
Angelman syndrome;
UBE3A;
Gene therapy;
Small-molecule compounds
- From:
International Journal of Pediatrics
2025;52(3):160-164
- CountryChina
- Language:Chinese
-
Abstract:
Angelman syndrome（AS）is a neurodevelopmental disorder caused by abnormal expression or functional deficiency of the UBE3A gene in the maternal chromosome 15q11~13 region.The main clinical manifestations include developmental delay，speech impairment，motor or balance disorders，happy behaviors（frequent laughing，smiling，or excitability），microcephaly，and epilepsy.Currently，the treatment of AS is primarily symptomatic and supportive.However，significant progress is being made in the development of targeted therapies，including small-molecule compounds and gene therapy.This article reviews the advances in AS treatment from these two perspectives.
