{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T10:59:55Z","timestamp":1790593195354,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T00:00:00Z","timestamp":1787443200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Glucose transporter deficiency syndrome type 1 (Glut1\u2010DS) is a rare neurometabolic disorder caused by pathogenic variants in\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    , characterized by epilepsy, neurodevelopmental delay, movement disorders, dysarthria, intellectual disability, and postnatal microcephaly. We aimed to characterize the natural history of a Brazilian cohort of patients with Glut1\u2010DS. Brazilian patients of all ages were included if they presented with clinical features consistent with Glut1\u2010DS and carried a pathogenic or likely pathogenic\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    variant. Forty patients were included (21 males; median age 9.1\u2009years [IQR: 6.0\u201312.9]; median age at diagnosis 5.0\u2009years [IQR: 3.0\u20139.9]), of whom 32 had the classical phenotype. The most frequent manifestations at inclusion were seizures (37\/40), speech delay (34\/40), and movement disorders (29\/35). Thirty\u2010four patients (85%) were receiving ketogenic dietary therapy (27 classical ketogenic diet and 7 modified Atkins diet). Cerebrospinal fluid analysis was performed in 10 patients (27.5%), all of whom had hypoglycorrhachia. Genetic testing identified 31 distinct\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    variants, including 15 novel variants. Intrafamilial phenotypic variability was observed in one of four families with recurrent disease, and reduced penetrance was identified in one affected parent. Missense variants were generally associated with milder phenotypes than truncating variants. These findings expand the phenotypic and genotypic spectrum of Glut1\u2010DS, highlight the high proportion of previously unreported\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    variants in the Brazilian population, and reinforce the importance of comprehensive genetic evaluation and counseling for affected families.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70113","type":"journal-article","created":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T00:45:38Z","timestamp":1787532338000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Glucose Transporter Deficiency Syndrome Type 1 (Glut1\u2010\n                    <scp>DS<\/scp>\n                    ): New Insights From a Brazilian Cohort of Patients"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4816-3899","authenticated-orcid":false,"given":"L\u00edvia Maria Ferreira","family":"Sobrinho","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Department of Pediatrics, School of Medicine Federal University of Minas Gerais  Belo Horizonte Minas Gerais Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1838-7800","authenticated-orcid":false,"given":"Juliana Cristine","family":"Fontana","sequence":"additional","affiliation":[{"name":"Clinical Research Center Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4653-3051","authenticated-orcid":false,"given":"Claudia F.","family":"Lorea","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3123-2264","authenticated-orcid":false,"given":"Helio","family":"van der Linden J\u00fanior","sequence":"additional","affiliation":[{"name":"Dr. Henrique Santillo Rehabilitation Center  Goi\u00e2nia Goi\u00e1s Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9712-4285","authenticated-orcid":false,"given":"Andr\u00e9a C. S.","family":"Leite","sequence":"additional","affiliation":[{"name":"Neuro Kids Clinic  Montes Claros Minas Gerais Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8574-0168","authenticated-orcid":false,"given":"Rayana Elias","family":"Maia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Genetics Federal University of Para\u00edba  Jo\u00e3o Pessoa Para\u00edba Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0306-6131","authenticated-orcid":false,"given":"Lilia","family":"Farret","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina F.","family":"Moura de Souza","sequence":"additional","affiliation":[{"name":"Clinical Research Center Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Casa dos Raros  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4506-6487","authenticated-orcid":false,"given":"Soraia","family":"Poloni","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-2876","authenticated-orcid":false,"given":"Fabiano O.","family":"Poswar","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Medical Genetics Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7933-6687","authenticated-orcid":false,"given":"Ida Vanessa D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology Federal University of Rio Grande do Sul (UFRGS)  Porto Alegre Rio Grande do Sul Brazil"},{"name":"Clinical Research Center Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"BRAIN Laboratory, Experimental Research Center Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Rio Grande do Sul Brazil"},{"name":"InRaras\u2013Instituto Nacional de Ci\u00eancia e Tecnologia Em Doen\u00e7as Raras  Porto Alegre Rio Grande do Sul 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