{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T15:17:43Z","timestamp":1792509463311,"version":"4.5.0"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T00:00:00Z","timestamp":1760313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Tuscany Region Call for Health 2018","award":["DECODE-EE"],"award-info":[{"award-number":["DECODE-EE"]}]},{"DOI":"10.13039\/501100015694","name":"Fondazione Cassa di Risparmio di Firenze","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100015694","id-type":"DOI","asserted-by":"crossref"}]},{"name":"\u2018Current Research Annual Funding\u2019 of the Italian Ministry of Health"},{"name":"Excellence Initiative of Aix\u2013Marseille University\/AMIDEX","award":["CALIN -R24002AA"],"award-info":[{"award-number":["CALIN -R24002AA"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Brain somatic variants in the SLC35A2 gene, encoding for a Golgi galactose transporter, represent the major cause of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Clinical features associated with MOGHE include early-onset epileptic encephalopathy, drug-resistant focal epilepsy with developmental delay, and intellectual disability. Half of somatic SLC35A2 variants identified in MOGHE patients are predicted to encode full-length SLC35A2 protein or stable protein products. We investigated the pathophysiological basis of MOGHE by analyzing the functional consequences of SLC35A2 pathogenetic variants in vitro and in vivo models. We assessed how different SLC35A2 variants impact protein stability and expression in transfected cellular models. We used in utero electroporation in the rat brain to model mosaic expression of SLC35A2 pathogenetic variants in the cerebral cortex and assessed their effect on neurons migration and morphology. We found that SLC35A2 variants identified in MOGHE patients variably impact on SLC35A2 protein expression. In utero expression of a SLC35A2 missense (p.G282A) or frameshift (p.F280Tfs*10) variants resulted in neuronal heterotopia in the white matter and impaired dendritogenesis at postnatal stages, suggesting a cell autonomous role for SLC35A2 in neuronal development. These phenotypes were recapitulated by in utero silencing of rat Slc35a2 gene. We successfully developed an in vivo mosaic model for the characterization of SLC35A2 variants identified in MOGHE patients and demonstrated that the expression of single SLC35A2 variants triggers the pathophysiological cascade associated with SLC35A2 dysfunction in neurons.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf156","type":"journal-article","created":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T11:57:00Z","timestamp":1758974220000},"page":"2019-2026","source":"Crossref","is-referenced-by-count":6,"title":["Mosaic expression of\n                    <i>SLC35A2<\/i>\n                    pathogenetic variants impairs neuronal migration and dendritogenesis in the developing cortex"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-0251","authenticated-orcid":false,"given":"Antonio","family":"Falace","sequence":"first","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto \u201cGiannina Gaslini,\u201d \u00a0 via Gaslini 5, 16147 Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Corbi\u00e8res","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Silvagnoli","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3610-5819","authenticated-orcid":false,"given":"Cristiana","family":"Pelorosso","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS , viale Pieraccini 24, 50139 Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Tuccari di San Carlo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS , viale Pieraccini 24, 50139 Florence ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Buhler","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeinab","family":"Hoteit","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvian","family":"Bauer","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Risso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, IRCCS Istituto \u201cGiannina Gaslini ,\u201d via Gaslini 5, 16147 Genoa ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quenol","family":"Cesar","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilie","family":"Pallesi-Pocachard","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2436-8593","authenticated-orcid":false,"given":"Jean-Bernard","family":"Manent","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5445-5842","authenticated-orcid":false,"given":"Carmen","family":"Barba","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS , viale Pieraccini 24, 50139 Florence ,","place":["Italy"]},{"name":"Department of Neuroscience, Pharmacology and Child Health, University of Florence, viale Pieraccini 6, 50139, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Human Genetics, Meyer Children\u2019s Hospital IRCCS , viale Pieraccini 24, 50139 Florence ,","place":["Italy"]},{"name":"Department of Neuroscience, Pharmacology and Child Health, University of Florence, viale Pieraccini 6, 50139, Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1914-9553","authenticated-orcid":false,"given":"Carlos","family":"Cardoso","sequence":"additional","affiliation":[{"name":"INMED, INSERM UMR1249, Aix Marseille University , Parc Scientifique de Luminy, 163 Av. de Luminy, 13009 Marseille 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