{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T23:30:31Z","timestamp":1783380631900,"version":"3.54.6"},"reference-count":15,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2021,1,12]],"date-time":"2021-01-12T00:00:00Z","timestamp":1610409600000},"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."],"abstract":"<jats:title>ABSTRACT:<\/jats:title>\n\t  <jats:sec id=\"S0317167121000032_as1\">\n\t    <jats:title>Background:<\/jats:title>\n\t    <jats:p>Glucose Transporter-1 (GLUT1) Deficiency Syndrome (GLUT1DS) is caused by defective transport of glucose across the blood\u2013brain barrier into brain cells resulting in hypoglycorrhachia due to the heterozygous pathogenic variants in <jats:italic>SLC2A1<\/jats:italic>. We report on the phenotypic spectrum of patients with pediatric GLUT1DS as well as their diagnostic methods from a single center in Canada.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167121000032_as2\">\n\t    <jats:title>Methods:<\/jats:title>\n\t    <jats:p>We reviewed patient charts for clinical features, biochemical and molecular genetic investigations, neuroimaging, treatment modalities, and outcomes of patients with GLUT1DS at our institution.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167121000032_as3\">\n\t    <jats:title>Results:<\/jats:title>\n\t    <jats:p>There were 13 patients. The most common initial symptom was seizures, with the most common seizure type being absence seizures (85%). Seventy-seven percent of the patients had movement disorders, and dystonia and ataxia were the most common movement disorders. Fifty-four percent of the patients did not have a history of developmental delay during their initial presentation, whereas all patients had developmental delay, intellectual disability, or cognitive dysfunction during their follow-up. All patients had a pathogenic or likely pathogenic variant in <jats:italic>SLC2A1<\/jats:italic> and missense variants were the most common variant type.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S0317167121000032_as4\">\n\t    <jats:title>Conclusion:<\/jats:title>\n\t    <jats:p>We present 13 patients with GLUT1DS in the pediatric patient population. Atypical clinical features such as hemiplegia and hemiplegic migraine were present in an infant; there was a high prevalence of absence seizures and movement disorders in our patient population. We report an increased number of patients with GLUT1DS since the introduction of next-generation sequencing in the clinical settings. We believe that GLUT1DS should be included in the differential diagnosis of seizures, movement disorders, and hemiplegic migraine.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/cjn.2021.3","type":"journal-article","created":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:37:18Z","timestamp":1610498238000},"page":"1-5","source":"Crossref","is-referenced-by-count":9,"title":["Phenotypic and Genotypic Spectrum of Glucose Transporter-1 Deficiency Syndrome"],"prefix":"10.1017","author":[{"given":"Danielle K.","family":"Bourque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Cordeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme A.M.","family":"Nimmo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeff","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8396-6764","authenticated-orcid":false,"given":"Saadet","family":"Mercimek-Andrews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2021,1,12]]},"reference":[{"key":"S0317167121000032_ref14","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181c55ebf"},{"key":"S0317167121000032_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2019.08.016"},{"key":"S0317167121000032_ref12","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2017.246"},{"key":"S0317167121000032_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-188"},{"key":"S0317167121000032_ref4","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22808"},{"key":"S0317167121000032_ref5","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.3090"},{"key":"S0317167121000032_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2018.06.010"},{"key":"S0317167121000032_ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2003.05302.x"},{"key":"S0317167121000032_ref6","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12414"},{"key":"S0317167121000032_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2015.06.018"},{"key":"S0317167121000032_ref9","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12954"},{"key":"S0317167121000032_ref15","doi-asserted-by":"publisher","DOI":"10.1177\/0333102414532379"},{"key":"S0317167121000032_ref7","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000265"},{"key":"S0317167121000032_ref11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03592.x"},{"key":"S0317167121000032_ref13","volume-title":"GeneReviews(\u00ae)","author":"Wang","year":"1993"}],"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\/S0317167121000032","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T09:18:38Z","timestamp":1615540718000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167121000032\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,12]]},"references-count":15,"alternative-id":["S0317167121000032"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2021.3","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,12]]}}}