{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T07:13:55Z","timestamp":1789197235098,"version":"build-2803163510"},"reference-count":7,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Child Neurology Open"],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:p>The Glutamate receptor, ionotropic, delta 2 gene codes for an ionotropic glutamate delta-2 receptor, which is selectively expressed in cerebellar Purkinje cells, and facilitates cerebellar synapse organization and transmission. The phenotype associated with the deletion of Glutamate receptor, ionotropic, delta 2 gene in humans was initially defined in 2013. In this case report, the authors describe 2 brothers who presented with developmental delay, tonic upward gaze, nystagmus, oculomotor apraxia, hypotonia, hyperreflexia, and ataxia. They were found to have a homozygous intragenic deletion within the Glutamate receptor, ionotropic, delta 2 gene at exon 2. Our patients serve as an addition to the literature of previously reported children with this rare clinical syndrome associated with Glutamate receptor, ionotropic, delta 2 deletion.<\/jats:p>","DOI":"10.1177\/2329048x17726168","type":"journal-article","created":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T03:07:10Z","timestamp":1503371230000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":12,"title":["A Rare Syndrome of\n                    <i>GRID2<\/i>\n                    Deletion in 2 Siblings"],"prefix":"10.1177","volume":"4","author":[{"given":"Aravindhan","family":"Veerapandiyan","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Enner","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatraman","family":"Thulasi","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Ming","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School, Newark, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2017,8,22]]},"reference":[{"key":"bibr1-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(95)11403-J"},{"key":"bibr2-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182a841a3"},{"key":"bibr3-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813484967"},{"key":"bibr4-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.95"},{"key":"bibr5-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"bibr6-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1126\/science.1185152"},{"key":"bibr7-2329048X17726168","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90334-8"}],"container-title":["Child Neurology Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X17726168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2329048X17726168","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2329048X17726168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:57:45Z","timestamp":1777391865000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2329048X17726168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":7,"alternative-id":["10.1177\/2329048X17726168"],"URL":"https:\/\/doi.org\/10.1177\/2329048x17726168","relation":{},"ISSN":["2329-048X","2329-048X"],"issn-type":[{"value":"2329-048X","type":"print"},{"value":"2329-048X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,1]]},"article-number":"2329048X17726168"}}