{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:21:28Z","timestamp":1761513688141,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2015,8,5]]},"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:p>For some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intractable infantile seizures, microcephaly, developmental delay and hypoglycorrhachia in the presence of a normal plasma glucose. It is caused by mutations in the <jats:italic>SLC2A1<\/jats:italic> gene, coding for GluT1, leading to a reduction in the available glucose transporter sites; it responds to the ketogenic diet. Recently, a wider spectrum of seizure syndromes have been associated with functional impairment of glucose transport caused by <jats:italic>SLC2A1<\/jats:italic> mutations. These syndromes include 12% of early-onset absence epilepsy and 1% of genetic generalised epilepsies, where they represent a risk allele contributing to polygenic inheritance. We describe a young man with early-onset absence seizures and paroxysmal exercise-induced dyskinesia. While this syndrome is uncommon, it is recognisable and its diagnosis allows consideration of treatment with the ketogenic diet. We discuss the role of genetic testing in early-onset absence seizures and genetic generalised epilepsy.<\/jats:p>","DOI":"10.1136\/practneurol-2015-001194","type":"journal-article","created":{"date-parts":[[2015,9,3]],"date-time":"2015-09-03T22:49:41Z","timestamp":1441320581000},"page":"50-52","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour"],"prefix":"10.1136","volume":"16","author":[{"given":"Ana\u00efs","family":"Thouin","sequence":"first","affiliation":[{"name":"Institute of Neuroscience, Newcastle University, Newcastle Upon Tyne, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas E","family":"Crompton","sequence":"additional","affiliation":[{"name":"Neurology Department, Northern Health, Epping, Victoria, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2015,9,3]]},"reference":[{"issue":"(Suppl 9)","key":"2025090410433802000_16.1.50.1","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1111\/j.1528-1167.2005.00313.x","article-title":"Idiopathic generalized epilepsies recognized by the International League Against Epilepsy","volume":"46","author":"Nordli","year":"2005","journal-title":"Epilepsia"},{"key":"2025090410433802000_16.1.50.2","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1046\/j.1528-1157.2003.54902.x","article-title":"Absence epilepsy with onset before age three years: a heterogeneous and often severe condition","volume":"44","author":"Chaix","year":"2003","journal-title":"Epilepsia"},{"key":"2025090410433802000_16.1.50.3","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109053251006"},{"key":"2025090410433802000_16.1.50.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-188"},{"key":"2025090410433802000_16.1.50.5","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1222"},{"key":"2025090410433802000_16.1.50.6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awn113"},{"key":"2025090410433802000_16.1.50.7","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21724"},{"key":"2025090410433802000_16.1.50.8","doi-asserted-by":"crossref","first-page":"e204","DOI":"10.1111\/epi.12007","article-title":"Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency","volume":"53","author":"Arsov","year":"2012","journal-title":"Epilepsia"},{"key":"2025090410433802000_16.1.50.9","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awp336"},{"key":"2025090410433802000_16.1.50.10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181eb58b4"},{"key":"2025090410433802000_16.1.50.11","doi-asserted-by":"publisher","DOI":"10.1002\/ana.23702"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2015-001194","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T17:43:48Z","timestamp":1757007828000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2015-001194"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,3]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2016,1,14]]},"published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.1136\/practneurol-2015-001194"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2015-001194","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2015,9,3]]}}}