{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:38:37Z","timestamp":1790044717228,"version":"4.0.1"},"reference-count":15,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T00:00:00Z","timestamp":1324425600000},"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":["J Child Neurol"],"published-print":{"date-parts":[[2012,6]]},"abstract":"<jats:p>Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly. The duplicated genetic segment was contained entirely within the first intron of LIS1, a segment that often contains inducers of transcription. Normal gyral patterns with mild volume loss were observed at birth. Follow-up cranial imaging revealed further white matter loss, diminished sulcation, and ventriculomegaly, suggesting expanding hydrocephalus ex vacuo. The radiographic pattern has not been documented in the presence of a LIS1 gene abnormality, and suggests that altered expression of LIS1 has wider phenotypic manifestations than currently defined.<\/jats:p>","DOI":"10.1177\/0883073811425972","type":"journal-article","created":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T23:29:30Z","timestamp":1324510170000},"page":"791-795","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["<i>LIS1<\/i>\n                    Duplication"],"prefix":"10.1177","volume":"27","author":[{"given":"Jason P.","family":"Lockrow","sequence":"first","affiliation":[{"name":"Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenton R.","family":"Holden","sequence":"additional","affiliation":[{"name":"Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, USA"},{"name":"Department of Pediatrics, Medical University of South Carolina, Charleston, SC, USA"},{"name":"Greenwood Genetic Center, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alka","family":"Dwivedi","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria G.","family":"Matheus","sequence":"additional","affiliation":[{"name":"Department of Radiology and Radiological Science, Medical University of South Carolina, Charleston, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Lyons","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenwood, SC, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2011,12,21]]},"reference":[{"key":"bibr1-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(00)01887-7"},{"key":"bibr2-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1993.03510230076039"},{"key":"bibr3-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0330"},{"key":"bibr4-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(83)80183-8"},{"key":"bibr5-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.213"},{"key":"bibr6-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.056507"},{"key":"bibr7-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1038\/ng.302"},{"key":"bibr8-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069906"},{"key":"bibr9-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065094"},{"key":"bibr10-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2010.02.002"},{"key":"bibr11-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.2029"},{"key":"bibr12-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.21.9893"},{"key":"bibr13-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1.10.1183"},{"key":"bibr14-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.2.157"},{"key":"bibr15-0883073811425972","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq182"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811425972","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073811425972","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073811425972","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:32Z","timestamp":1777494992000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073811425972"}},"subtitle":["Expanding the Phenotype"],"short-title":[],"issued":{"date-parts":[[2011,12,21]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1177\/0883073811425972"],"URL":"https:\/\/doi.org\/10.1177\/0883073811425972","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,21]]}}}