Article

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsy

2026-03-04

Abstract excerpt

Rare germline and somatic variants in SLC35A2 cause a spectrum of severe glycosylation disorders that commonly present with epilepsy. SLC35A2 encodes the Golgi transporter for UDP-galactose, but how its deficiency leads to severe neurodevelopmental disorders is unknown. Using a mouse model deficient for Slc35a2 in the forebrain, we identified a specific defect in O-GalNAc glycan synthesis, while other galactose...

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Literature Corpus work: 248881e9-e5d8-5437-9fea-1482fc8b375f
DOI: 10.64898/2026.03.02.708854

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