{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:44:17Z","timestamp":1789393457204,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T00:00:00Z","timestamp":1446681600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001734","name":"University of Copenhagen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001734","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The first mutations identified in <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic>, encoding the glucose transporter type 1 (<jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>1) protein of the blood\u2013brain barrier, were associated with severe epileptic encephalopathy. Recently, dominant <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (<jats:styled-content style=\"fixed-case\">EOAE<\/jats:styled-content>), myoclonic astatic epilepsy (<jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>), and genetic generalized epilepsy (<jats:styled-content style=\"fixed-case\">GGE<\/jats:styled-content>). Our study aimed to investigate the possible role of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> in various forms of epilepsy including <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content> and absence epilepsy with early onset. We also aimed to estimate the frequency of <jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>1 deficiency syndrome in the Danish population. One hundred twenty patients with <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>, 50 patients with absence epilepsy, and 37 patients with unselected epilepsies, intellectual disability (<jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>), and\/or various movement disorders were screened for mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic>. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> were detected in 5 (10%) of 50 patients with absence epilepsy, and in one (2.7%) of 37 patient with unselected epilepsies, <jats:styled-content style=\"fixed-case\">ID<\/jats:styled-content>, and\/or various movement disorders. None of the 120 <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content> patients harbored <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> mutations. We estimated the frequency of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> mutations in the Danish population to be approximately 1:83,000. Our study confirmed the role of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> mutations in absence epilepsy with early onset. However, our study failed to support the notion that <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>2A1<\/jats:italic> aberrations are a cause of <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content> without associated features such as movement disorders.<\/jats:p>","DOI":"10.1111\/epi.13222","type":"journal-article","created":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T12:17:11Z","timestamp":1446725831000},"source":"Crossref","is-referenced-by-count":97,"title":["The role of <i><scp>SLC<\/scp>2A1<\/i> mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of <scp>GLUT<\/scp>1 deficiency syndrome"],"prefix":"10.1111","volume":"56","author":[{"given":"Jan","family":"Larsen","sequence":"first","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrine Marie","family":"Johannesen","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Ek","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Herlev Hospital Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Marini","sequence":"additional","affiliation":[{"name":"Neurology Unit and Neurogenetic Laboratories Meyer Children's Hospital Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Blichfeldt","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Odense University Hospital Denmark Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kib\u00e6k","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Odense University Hospital Denmark Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"von Spiczak","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Schleswig\u2010Holstein Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Weckhuysen","sequence":"additional","affiliation":[{"name":"Neurogenetics Group Department of Molecular Genetics VIB Antwerp Belgium"},{"name":"Laboratory of Neurogenetics Institute Born\u2010Bunge University of Antwerp Antwerp Belgium"},{"name":"INSERM U 1127 The National Scientific Research Center UMR7225 University of Pierre and Marie Curie (Paris 6) UMR 1127 The Brain and Spinal Institute University of Sorbonne Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mimoza","family":"Frangu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Holb\u00e6k Hospital Holb\u00e6k Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd Axel","family":"Neubauer","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Giessen and Marburg Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Uldall","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Clinic Rigshospitalet Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Neurology and Muscular Diseases Department of Neuroscience Rehabilitation Ophthalmology Genetics and Maternal\u2010Infant Science Institute of G. Gaslini University of Genova Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics Department of Neurosciences Giannina Gaslini Institute Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"MAE working group of the EuroEPINOMICS RES Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Kleiss","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Schleswig\u2010Holstein Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Simpson","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics King's College London Guy's Hospital London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiltrud","family":"Muhle","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics University Medical Center Schleswig\u2010Holstein Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Nikanorova","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Institute for Regional Health Research University of Southern Denmark Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Jepsen","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Tommerup","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine Johannsen Center for Functional Genome Research University of Copenhagen Wilhelm Copenhagen 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