{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T15:02:52Z","timestamp":1771513372136,"version":"3.50.1"},"reference-count":10,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2017,11,16]],"date-time":"2017-11-16T00:00:00Z","timestamp":1510790400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and <jats:italic>SCN1A-<\/jats:italic>, <jats:italic>SCN8A-<\/jats:italic>, and <jats:italic>STXBP1<\/jats:italic>-associated epileptic encephalopathies. The prevalence of genetic diagnoses was 21% and prevalence of GLUT1 deficiency was 2.4% in our retrospective cohort study.<\/jats:p>","DOI":"10.1017\/cjn.2017.246","type":"journal-article","created":{"date-parts":[[2017,11,16]],"date-time":"2017-11-16T09:01:51Z","timestamp":1510822911000},"page":"93-96","source":"Crossref","is-referenced-by-count":6,"title":["Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic"],"prefix":"10.1017","volume":"45","author":[{"given":"Stacy","family":"Hewson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ledia","family":"Brunga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde Fernandez","family":"Ojeda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Imhof","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaina","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Zak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth J.","family":"Donner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gajja S.","family":"Salomons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadet","family":"Mercimek-Andrews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2017,11,16]]},"reference":[{"key":"S0317167117002463_ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.018"},{"key":"S0317167117002463_ref5","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12954"},{"key":"S0317167117002463_ref1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"},{"key":"S0317167117002463_ref9","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12781"},{"key":"S0317167117002463_ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2008.01765.x"},{"key":"S0317167117002463_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2015.04.012"},{"key":"S0317167117002463_ref10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03592.x"},{"key":"S0317167117002463_ref4","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.6.1655"},{"key":"S0317167117002463_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2014.01.003"},{"key":"S0317167117002463_ref3","volume-title":"GeneReviews\u00ae","author":"Wang","year":"1993-2014"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167117002463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,15]],"date-time":"2019-04-15T17:45:38Z","timestamp":1555350338000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167117002463\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,16]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["S0317167117002463"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2017.246","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,16]]}}}