{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:20:36Z","timestamp":1790252436902,"version":"4.1.0"},"reference-count":32,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T00:00:00Z","timestamp":1630368000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Glucose transporter type 1 (GLUT1) is the most important energy carrier of the brain across the blood\u2013brain barrier, and a genetic defect of GLUT1 is known as GLUT1 deficiency syndrome (GLUT1DS). It is characterized by early infantile seizures, developmental delay, microcephaly, ataxia, and various paroxysmal neurological phenomena. In most cases, GLUT1DS is caused by heterozygous single-nucleotide variants (SNVs) in the SLC2A1 gene that provoke complete or severe impairment of the functionality and\/or expression of GLUT1 in the brain. Despite the rarity of these diseases, GLUT1DS is of high clinical interest since a very effective therapy, the ketogenic diet, can improve or reverse symptoms, especially if it is started as early as possible. We present a clinical phenotype, biochemical analysis, electroencephalographic and neuropsychological features of an 11-month-old boy with myoclonic seizures, hypogammaglobulinemia, and mildly impaired gross motor development. Using sequence analysis and deletion\/duplication testing, deletion of an entire coding sequence in the SLC2A1 gene was detected. Early introduction of a modified Atkins diet maintained a seizure-free period without antiseizure medications and normal cognitive development in the follow-up period. Our report summarizes the clinical features of GLUT1 syndromes and discusses the importance of early identification and molecular confirmation of GLUT1DS as a treatable metabolic disorder.<\/jats:p>","DOI":"10.3390\/genes12091379","type":"journal-article","created":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T21:59:45Z","timestamp":1630447185000},"page":"1379","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["GLUT1 Deficiency Syndrome\u2014Early Treatment Maintains Cognitive Development? (Literature Review and Case Report)"],"prefix":"10.3390","volume":"12","author":[{"given":"Ivana","family":"Kolic","sequence":"first","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Clinical Science, Faculty of Health Studies, University of Rijeka, Viktora Cara Emina 5, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelena","family":"Radic Nisevic","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge","family":"Vlasic Cicvaric","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"},{"name":"Department of Clinical, Health and Organizational Psychology, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivona","family":"Butorac Ahel","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4021-1606","authenticated-orcid":false,"given":"Kristina","family":"Lah Tomulic","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvije","family":"Segulja","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Clinical Science, Faculty of Health Studies, University of Rijeka, Viktora Cara Emina 5, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Baraba Dekanic","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Clinical Science, Faculty of Health Studies, University of Rijeka, Viktora Cara Emina 5, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senada","family":"Serifi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Ovuka","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Prpic","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Clinical Hospital Center Rijeka, Kresimirova 42, 51000 Rijeka, Croatia"},{"name":"Department of Pediatrics, School of Medicine Rijeka, University of Rijeka, Brace Branchetta 20\/1, 51000 Rijeka, Croatia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1528-1167.2008.01833.x","article-title":"Glucose Transporter Deficiency Syndrome (GLUT1DS) and the Ketogenic Diet","volume":"49","author":"Klepper","year":"2008","journal-title":"Epilepsia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.yebeh.2018.06.010","article-title":"The Glucose Transporter Type 1 (Glut1) Syndromes","volume":"91","author":"Koch","year":"2019","journal-title":"Epilepsy Behav."},{"key":"ref_3","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. 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