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

作　　者：刘安红 张静[2] 李书香 钱欣 夏阳 高鹏[5] LIU Anhong;ZHANG Jing;LI Shuxiang;QIAN Xin;XIA Yang;GAO Peng(Department of Nerve Electrophysiology,General Hospital of Ningxia Medical University,Yinchuan 750001,Ningxia,China;不详)

机构地区：[1]宁夏医科大学总医院神经电生理科,宁夏银川750001 [2]宁夏医科大学总医院医学科学研究院,宁夏银川750001 [3]宁夏医科大学总医院儿科,宁夏银川750001 [4]宁夏医科大学颅脑疾病重点实验室,宁夏银川750001 [5]宁夏医科大学总医院神经外科,宁夏银川750001

出　　处：《实用医学杂志》2025年第8期1091-1096,共6页The Journal of Practical Medicine

基　　金：中国抗癫痫协会(CAAE)癫痫科研基金-UCB基金(编号:CU-2024-055);宁夏回族自治区重点研发计划项目(编号:2020BEB04033);宁夏自然科学基金项目(编号:2024AAC03590,2024AAC03553);宁夏教育厅高等学校研究项目(编号:NYG2024125);宁夏医科大学校级科研项目(编号:XM2023025)。

摘　　要：癫痫(EP)是一组以大脑神经元异常放电为核心特征的慢性神经系统疾病,然而,约有1/3的患者存在明显的耐药性,研究证实遗传因素起重要作用。ALG13基因编码尿苷二磷酸-N-乙酰葡糖胺(UDP-GlcNAc)转移酶的亚基,其突变可导致先天性糖基化障碍(CDG),此类患者多伴有癫痫发作,这提示ALG13基因遗传变异与糖基化障碍及癫痫之间存在强关联。该综述首次系统地整合了ALG13基因结构功能,以及其突变与癫痫之间的关联证据和潜在作用机制。通过多维度剖析,为深入探究ALG13基因与癫痫的关系、开展精准诊断及靶向药物研发,提供重要的临床指导。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 

分 类 号：R742.1[医药卫生—神经病学与精神病学]