bims-meglyc 2026-06-07 papers

Issue of 2026–06–07
two papers selected by
Silvia Radenkovic, UMC Utrecht

Cureus. 2026 Apr;18(4): e107892

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Shambhavi Trivedi, Jyoti C Suvarna, Durga Patel, Purnima Nair, Salil Vaniawala, Pramila Menon, Vasundhara Tamhankar, Parag M Tamhankar.

Type I congenital disorder of glycosylation (CDG) is a group of genetic disorders that affect the biosynthesis of dolichol-linked oligosaccharides or the transfer of oligosaccharides onto nascent glycoproteins. Mutations in the ALG1 gene cause CDG type Ik. We report a ten-month-old female with CDG type Ik presenting with recurrent seizures, global developmental delay, hypotonia, and dysmorphic features. Whole-exome sequencing revealed a homozygous likely pathogenic variant chr16:5071980G>T or c.131G>T or p.Gly44Val in the ALG1 gene. Transferrin isoform analysis showed a CDG type I pattern, consistent with a glycosylation disorder. This case emphasizes the importance of early clinical suspicion, metabolic screening, and genetic testing in infants with unexplained recurrent seizures, syndromic features, and multisystemic involvement.

Keywords: alg1; autosomal recessive disorders; congenital disorder of glycosylation; from india; whole-exome sequencing (wes)

DOI: https://doi.org/10.7759/cureus.107892

Rev Neurosci. 2026 Jun 05.

Abnormal protein glycosylation in epileptogenesis: evidence from experimental models and clinical insights.

Gang Liu, Shaobo Liu, Guanyu Wang, Ning Fan, Weijie Dong, Jian Yin.

Epilepsy is a brain disease caused by transient changes in the patients' clinical status due to excessive neuronal discharge or depolarization. Despite the increasing understanding of potential risk factors for epileptic seizures, there is still no method to prevent the onset of epilepsy in high-risk populations, and clear diagnostic criteria remain lacking. Currently, the clinical diagnosis of epilepsy primarily depends on the patient's detailed seizure history and reliable witness accounts. Correct diagnosis facilitates the selection of optimal therapy and the evaluation of the epilepsy outcome. Mounting evidence indicates that protein glycosylation exerts specific modulatory effects on neural transmission and neural circuit excitability. Glycosylation defects often lead to central nervous system structural abnormalities, developmental delay, and seizures. With advancements in glycosylation research methods and techniques, nervous system diseases associated with glycosylation changes have garnered growing attention. This paper reviews recent studies on glycosylation changes related to epilepsy, aiming to elucidate the mechanisms of epilepsy development from a glycosylation perspective and provide a theoretical basis for epilepsy diagnosis and targeted therapy. Notably, our recently published study on kainic acid-induced epileptic rats provides direct experimental evidence for the association between abnormal glycosylation and epilepsy, further supporting the clinical relevance of glycosylation research in this field.

Keywords: biomarker; epilepsy; glycosylation; neurological disorders

DOI: https://doi.org/10.1515/revneuro-2026-0011