Research progress of glycosylation disorder epilepsy associated with ALG13 mutation
LIU Anhong
ZHANG Jing
LI Shuxiang
QIAN Xin
XIA Yang
GAO Peng
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.
Keywords：ALG13glycosylation disorderN-glycosylationepilepsy
Publication Date：2025-04-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 1091-1096 )