{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:18:20Z","timestamp":1787318300613,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T00:00:00Z","timestamp":1733443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RIN \u2010 RCR\u20102022\u201023682290"],"award-info":[{"award-number":["RIN \u2010 RCR\u20102022\u201023682290"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["208184"],"award-info":[{"award-number":["208184"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early\u2010onset epilepsy that often resists conventional pharmacological treatment. Ketogenic diet therapy (KDT) is the preferred approach to address the underlying metabolic anomaly. However, a subset of GLUT1DS patients presents resistance to KDT, with the causes remaining elusive. This comprehensive literature review aims to explore the characteristics of KDT failure in GLUT1DS and identify risk factors within this population. Our goal is to improve counseling and prognostication for these patients. So, we conducted a comprehensive literature review on PubMed, focusing on studies documenting pediatric GLUT1DS patients with drug\u2010resistant epilepsy unresponsive to KDT. We identified five cases of KDT failure in female GLUT1DS patients, aged 10\u2009days to 13\u2009years at diagnosis. Predominant seizure types were absence seizures, with a few cases of clonic, tonic, or myoclonic seizures. EEG consistently revealed 2\u20133.5\u2009Hz generalized spike\u2010and\u2010wave discharges. Genetic investigations revealed point mutations and deletions in two cases each. Despite an in\u2010depth search, no specific features were found to reliably distinguish KDT non\u2010responders from responders, underscoring the need for further research. In cases of KDT ineffectiveness for seizure control in GLUT1DS patients, exploring alternative therapeutic strategies becomes imperative to managing symptoms while maintaining quality of life. Large\u2010scale multicenter studies, facilitated through international collaborations like the European Network for Therapy in Rare Epilepsies (NETRE), hold promise in elucidating the complexities of this patient population and developing personalized therapeutic approaches.<\/jats:p><\/jats:sec><jats:sec><jats:title>Plain Language Summary<\/jats:title><jats:p>Glucose transporter type 1 deficiency syndrome often causes difficult\u2010to\u2010treat epilepsy. The ketogenic diet works for many patients, but some do not respond. This review investigated cases of diet failure but could not identify common features among poor responders. Further research is needed to understand these cases and explore alternative treatments.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.13110","type":"journal-article","created":{"date-parts":[[2024,12,6]],"date-time":"2024-12-06T10:56:07Z","timestamp":1733482567000},"page":"31-39","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Exploring ketogenic diet resistance in glucose transporter type 1 deficiency syndrome: A comprehensive review and critical appraisal"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4482-3506","authenticated-orcid":false,"given":"Raffaele","family":"Falsaperla","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero\u2010Universitaria Policlinico \"Rodolico\u2010San Marco,\" San Marco Hospital University of Catania  Catania Italy"},{"name":"Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero\u2010Universitaria Policlinico \"Rodolico\u2010San Marco,\" San Marco Hospital University of Catania  Catania Italy"},{"name":"Department of Medical Sciences\u2010Pediatric Section University of Ferrara  Ferrara Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Sortino","sequence":"additional","affiliation":[{"name":"Unit of Pediatrics and Pediatric Emergency, Azienda Ospedaliero\u2010Universitaria Policlinico \"Rodolico\u2010San Marco,\" San Marco Hospital University of Catania  Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerhard Josef","family":"Kluger","sequence":"additional","affiliation":[{"name":"Epilepsy Center for Children and Adolescents Sch\u00f6n Clinic Vogtareuth  Vogtareuth Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Herberhold","sequence":"additional","affiliation":[{"name":"Clinic for Neuropediatrics and Neurorehabilitation Epilepsy Center for Children and Adolescents, Sch\u00f6n Klinik Vogtareuth  Vogtareuth Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"R\u00fcegger","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Children's Hospital Zurich  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini\", Full Member of ERN\u2010Epicare  Genova Italy"},{"name":"Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genova  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martino","family":"Ruggieri","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases of the Nervous 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