实用医学杂志2025，Vol.41Issue(8)：1091-1096,6.DOI:10.3969/j.issn.1006-5725.2025.08.001
ALG13突变相关糖基化障碍型癫痫的研究进展
Research progress of glycosylation disorder epilepsy associated with ALG13 mutation
摘要
Abstract
Epilepsy(EP)is a group of chronic neurological disorders characterized by abnormal discharges of brain neurons.Howeve,approximately one-third of patients exhibit obvious drug resistance,and studies have confirmed the critical role of genetic factors.The ALG13 gene encodes a subunit of uridine diphosphate N-acetylglucosamine(UDP-GlcNAc)transferase,and its mutations can lead to congenital disorders of glycosylation(CDGs).Patients with such mutations frequently present with epileptic seizures,indicating a strong association between ALG13 genetic variants,glycosylation defects,and epilepsy.This review systematically integrates,for the first time,the structural and functional aspects of the ALG13 gene,as well as the evidence of the association between its mutations and epilepsy,and the potential mechanisms of action.Through a multi-dimensional analysis,it provides important clinical guidance for in-depth exploration of the relationship between the ALG13 gene and epilepsy,the development of precise diagnosis,and the research and development of targeted drugs.关键词
ALG13/糖基化障碍/N-糖基化/癫痫Key words
ALG13/glycosylation disorder/N-glycosylation/epilepsy分类
临床医学引用本文复制引用
刘安红,张静,李书香,钱欣,夏阳,高鹏..ALG13突变相关糖基化障碍型癫痫的研究进展[J].实用医学杂志,2025,41(8):1091-1096,6.基金项目
中国抗癫痫协会(CAAE)癫痫科研基金-UCB基金(编号:CU-2024-055) （CAAE）
宁夏回族自治区重点研发计划项目(编号:2020BEB04033) （编号:2020BEB04033）
宁夏自然科学基金项目(编号:2024AAC03590,2024AAC03553) （编号:2024AAC03590,2024AAC03553）
宁夏教育厅高等学校研究项目(编号:NYG2024125) （编号:NYG2024125）
宁夏医科大学校级科研项目(编号:XM2023025) （编号:XM2023025）
