{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:57:46Z","timestamp":1790017066100,"version":"4.0.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2007,5]]},"abstract":"<jats:p>A <jats:italic>de novo<\/jats:italic> 4.1\u2010megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array\u2010based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (<jats:italic>SLC2A1<\/jats:italic> or <jats:italic>GLUT1<\/jats:italic>) gene. The deletion of the <jats:italic>GLUT1<\/jats:italic> gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777). GLUT1 deficiency syndrome is characterized by therapy\u2010resistant infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low concentration of glucose in the CSF. It is known that a ketogenic diet can lead to better control of seizures. This case study shows that identifying a microdeletion as the cause of learning disability is not only important for genetic counselling but might also lead to therapeutic intervention.<\/jats:p>","DOI":"10.1111\/j.1469-8749.2007.00380.x","type":"journal-article","created":{"date-parts":[[2009,6,23]],"date-time":"2009-06-23T07:38:00Z","timestamp":1245742680000},"page":"380-384","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["A novel microdeletion in 1(p34.2p34.3), involving the <i>SLC2A1<\/i> (<i>GLUT1<\/i>) gene, and severe delayed development"],"prefix":"10.1111","volume":"49","author":[{"given":"Sascha","family":"Vermeer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A","family":"Koolen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gepke","family":"Visser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hein J L","family":"Brackel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"Van Der Burgt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"De Leeuw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mich\u00e8l A A P","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A","family":"Sistermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B A","family":"De Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5]]},"reference":[{"key":"e_1_2_2_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1997.tb07395.x"},{"key":"e_1_2_2_3_2","volume-title":"Catalogue of Unbalanced Chromosome Aberrations in Man","author":"Schinzel A.","year":"2001"},{"key":"e_1_2_2_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029637"},{"key":"e_1_2_2_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032268"},{"key":"e_1_2_2_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"e_1_2_2_7_2","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"e_1_2_2_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_2_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.023671"},{"key":"e_1_2_2_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf056"},{"key":"e_1_2_2_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03489.x"},{"key":"e_1_2_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<107::AID-AJMG1>3.0.CO;2-N"},{"key":"e_1_2_2_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20331"},{"key":"e_1_2_2_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-0939-3"},{"key":"e_1_2_2_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2536196100"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2007.00380.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2007.00380.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T09:13:42Z","timestamp":1700039622000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2007.00380.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["10.1111\/j.1469-8749.2007.00380.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2007.00380.x","archive":["Portico"],"relation":{},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5]]},"assertion":[{"value":"2007-05-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}