ALG13突变相关糖基化障碍型癫痫的研究进展

doi:10.3969/j.issn.1006-5725.2025.08.001

Abstract

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.

Key words: ALG13, glycosylation disorder, N - glycosylation, epilepsy

CLC Number:

R742.1

Anhong LIU,Jing ZHANG,Shuxiang LI,Xin QIAN,Yang XIA,Peng. GAO. Research progress of glycosylation disorder epilepsy associated with ALG13 mutation[J]. The Journal of Practical Medicine, 2025, 41(8): 1091-1096.

Figures/Tables 2

References 43

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Research progress of glycosylation disorder epilepsy associated with ALG13 mutation

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