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中华妇幼临床医学杂志(电子版)

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2026, Vol. 22 ›› Issue (04): 354 -363. doi: 10.3877/cma.j.issn.1673-5250.2026.04.010

Review

Epileptogenic mechanisms and clinical management of pediatric epilepsy associated with congenital disorders of glycosylation

Haorui Liu, Jing Gan, Lijuan Fan†()   

  1. Department of Pediatrics, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2026-04-09 Revised:2026-06-13 Published:2026-08-01
  • Corresponding author: Lijuan Fan
  • Supported by:
    National Natural Science Foundation of China(82071686)
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Congenital disorders of glycosylation (CDG) are a group of inherited diseases caused by abnormalities in the glycosylation of proteins, lipids, or glycosylphosphatidylinositol anchors. CDG may contribute to epileptogenesis through multiple pathways, including impaired neurodevelopment, altered ion channel and receptor function, disrupted synaptic transmission, cellular stress, and neuroinflammation. Some CDG-related epilepsies may manifest as early-onset, drug-resistant developmental and epileptic encephalopathy (DEE). Their pathogenesis is thought to be associated with glycosylation defects that disrupt multiple cellular and molecular processes, including neuronal membrane integrity, signaling pathways, synaptic transmission, neurodevelopment, and metabolism, often accompanied by multisystem involvement. Recent studies have shown that glycosylation abnormalities may not only participate in the pathogenesis of CDG-related epilepsy, but seizure-related changes in glycosylation modifications in brain tissue may also affect synaptic plasticity and the stability of local neural circuits. As brain networks in children are still undergoing development and remodeling, these changes may be associated with phenotypic evolution and long-term neurodevelopmental outcomes; however, direct clinical evidence remains limited. This review summarizes the pathogenic mechanisms, age-related clinical features, diagnostic strategies, etiology-directed treatment, long-term management, and prognostic evaluation of CDG-related pediatric epilepsy, with the aim of providing a reference for clinicians in early recognition, stratified diagnosis and treatment, and long-term management of this condition.

Key words: Glycosylation, Congenital disorders of glycosylation, Epilepsy, Anticonvulsants, Age of onset, Phenotype, Clinical protocols, Child
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