Research progress of glycosylation disorder epilepsy associated with ALG13 mutation
10.3969/j.issn.1006-5725.2025.08.001
- VernacularTitle:ALG13突变相关糖基化障碍型癫痫的研究进展
- Author:
Anhong LIU
1
;
Jing ZHANG
;
Shuxiang LI
;
Xin QIAN
;
Yang XIA
;
Peng GAO
Author Information
1. 宁夏医科大学总医院 神经电生理科(宁夏 银川 750001)
- Publication Type:Journal Article
- Keywords:
ALG13;
glycosylation disorder;
N-glycosylation;
epilepsy
- From:
The Journal of Practical Medicine
2025;41(8):1091-1096
- CountryChina
- Language:Chinese
-
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.
