{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T17:01:09Z","timestamp":1785085269560,"version":"3.55.0"},"reference-count":26,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:00:00Z","timestamp":1784851200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:p>\n                    Glucose transporter 1 (GLUT1) deficiency syndrome is a rare metabolic disorder caused by mutations in the\n                    <jats:italic toggle=\"yes\">SLC2A1<\/jats:italic>\n                    gene resulting in impaired glucose transport through the blood-brain barrier. The \u201cclassic\u201d phenotype in children includes early-onset drug-resistant epilepsy, especially absence epilepsy, cognitive delay, movement disorders, and microcephaly. The ketogenic diet is the only treatment. We report a case of a 12-year-old girl who presented at the age of 11 years with daily absence seizures unresponsive to multiple antiseizure medications. Her poor therapeutic response raised suspicion for an underlying genetic etiology. Whole exome sequencing revealed a heterozygous mutation in the\n                    <jats:italic toggle=\"yes\">SLC2A1<\/jats:italic>\n                    gene, confirming a diagnosis of autosomal dominant GLUT1 deficiency syndrome type 2. The patient showed significant clinical improvement following the initiation of the ketogenic diet. This case highlights the importance of genetic evaluation in refractory absence epilepsy and the role of dietary therapy in GLUT1 deficiency.\n                  <\/jats:p>","DOI":"10.1177\/08830738261463079","type":"journal-article","created":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T13:26:26Z","timestamp":1784899586000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5499-8334","authenticated-orcid":false,"given":"Hana","family":"Ahmed","sequence":"first","affiliation":[{"name":"Armed forces hospital, southern region"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad","family":"Alsumaili","sequence":"additional","affiliation":[{"name":"Armed forces hospital, southern region"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Saeed","sequence":"additional","affiliation":[{"name":"Armed forces hospital, southern region"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayseer","family":"Abdelmagid","sequence":"additional","affiliation":[{"name":"Armed forces hospital, southern region"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,24]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2024.01.002"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/pediatric13040078"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.4103\/JPN.JPN_160_16"},{"key":"e_1_3_2_5_2","doi-asserted-by":"crossref","unstructured":"Mullen SA Suls MA De Jonghe P Berkovic SF Scheffer IE. 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