{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:39:36Z","timestamp":1793263176046,"version":"4.5.0"},"reference-count":100,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T00:00:00Z","timestamp":1597276800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS077015"],"award-info":[{"award-number":["NS077015"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS094257"],"award-info":[{"award-number":["NS094257"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n\u00a0=\u00a023) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide\u2010ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye\u2010head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic\n                    <jats:italic>SLC2A1<\/jats:italic>\n                    variants. KDT represent standard choices with Glut1DS\u2010specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function.\n                    <jats:bold>C<\/jats:bold>\n                    linical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long\u2010term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle.\n                  <\/jats:p>","DOI":"10.1002\/epi4.12414","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T05:19:37Z","timestamp":1593235177000},"page":"354-365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":289,"title":["Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-025X","authenticated-orcid":false,"given":"Joerg","family":"Klepper","sequence":"first","affiliation":[{"name":"Children's Hospital Aschaffenburg\u2010Alzenau Aschaffenburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cigdem","family":"Akman","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6776-6380","authenticated-orcid":false,"given":"Marisa","family":"Armeno","sequence":"additional","affiliation":[{"name":"Department of Nutrition Hospital Pediatria JP Garrahan Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3874-9749","authenticated-orcid":false,"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology CHU H\u00f4pital Robert Debre APHP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mackenzie","family":"Cervenka","sequence":"additional","affiliation":[{"name":"Department of Neurology Comprehensive Epilepsy Center Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen J.","family":"Cross","sequence":"additional","affiliation":[{"name":"UCL NIHR BRC Great Ormond Street Institute of Child Health London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"De Giorgis","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry IRCCS Mondino Foundation Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adela","family":"Della Marina","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Engelstad","sequence":"additional","affiliation":[{"name":"Department of Neurology and Pediatrics Vagelos College of Physicians and Surgeons at Columbia University New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Heussinger","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Paracelsus Medical Private University Nuremberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric H.","family":"Kossoff","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Pediatrics Johns Hopkins University Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilhelmina G.","family":"Leen","sequence":"additional","affiliation":[{"name":"Department of Neurology Canisius Wilhemina Hospital Nijmegen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baerbel","family":"Leiendecker","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen University of Duisburg\u2010Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umrao R.","family":"Monani","sequence":"additional","affiliation":[{"name":"Center for Motor Neuron Biology &amp; 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