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December 4, 2025International Journal of Molecular SciencesOpen Access

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights

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Authors

BRBeatrice RissoARAntonella RivaGVGreta Volpedo

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Overview

This review highlights glycosylation's role in epilepsy and other neurological disorders, implying therapeutic perspectives may involve precision medicine and animal models.

Key Points

  • Neurological disorders arise from glycosylation defects, affecting the function of glycolipids.
  • The review discusses implications for therapies, including the use of precision medicine and galactose supplementation.
  • Insights from animal models support the understanding of SLC35A2-related conditions and their clinical phenotypes.
  • Translational approaches are discussed, emphasizing human genetics and neuropathology in therapy development.

Cite This Study

Risso et al. (2025) studied this question.

synapsesocial.com/papers/6930dc81ea1aef094cca252dhttps://doi.org/10.3390/ijms262311560
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Also Consider

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  1. 1Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG2025
  2. 2Clinical and molecular characterisation of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases2025
  3. 3Rare Presentations of GLUT1 Deficiency Syndrome: Rare Variants With Cortical Dysplasia in Two Unrelated Families2025
  4. 4Recent insights into the implications of UGDH mutations for human developmental disease2025
  5. 5Solute carrier family 2 member 3: A central mediator in aerobic glycolysis contributing to tumor malignant progression2025