{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T02:45:29Z","timestamp":1787193929617,"version":"build-2736575974"},"reference-count":57,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T00:00:00Z","timestamp":1764288000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of University and Research"},{"name":"National Recovery and Resilience Plan","award":["PE0000006"],"award-info":[{"award-number":["PE0000006"]}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"crossref","award":["RICERCA CORRENTE 2025"],"award-info":[{"award-number":["RICERCA CORRENTE 2025"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"crossref"}]},{"name":"HUMANITAS MIRASOLESPA","award":["NET2019"],"award-info":[{"award-number":["NET2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>SLC35A2 encodes the Golgi uridine diphosphate galactose transporter, which is essential for glycosylation of glycoproteins and glycolipids. Variants in this gene, either germline or somatic, have emerged as causes of diverse neurological disorders ranging from congenital disorders of glycosylation (SLC35A2-CDG) to focal cortical malformations such as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). This review summarizes the molecular function of SLC35A2, clinical phenotypes of congenital and somatic variants, insights from functional assays and animal models, and therapeutic perspectives including galactose supplementation and precision medicine. We aim to provide an integrative synthesis of human genetics, neuropathology, glycomics, and translational approaches.<\/jats:p>","DOI":"10.3390\/ijms262311560","type":"journal-article","created":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T08:13:49Z","timestamp":1764576829000},"page":"11560","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7767-200X","authenticated-orcid":false,"given":"Beatrice","family":"Risso","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9152-5571","authenticated-orcid":false,"given":"Antonella","family":"Riva","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1112-7715","authenticated-orcid":false,"given":"Greta","family":"Volpedo","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8326-6378","authenticated-orcid":false,"given":"Valerio","family":"Conti","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS, Viale Pieraccini 24, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-9537-4800","authenticated-orcid":false,"given":"Clara Tuccari","family":"di San Carlo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS, Viale Pieraccini 24, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9744-5222","authenticated-orcid":false,"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy"},{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS G. Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-0251","authenticated-orcid":false,"given":"Antonio","family":"Falace","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS G. Gaslini, Full Member of ERN-EPICARE, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"key":"ref_1","first-page":"161","article-title":"Solving glycosylation disorders: Fundamental approaches reveal complicated pathways","volume":"96","author":"Freeze","year":"2015","journal-title":"Am. J. Hum. 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