{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:22:45Z","timestamp":1761488565925},"reference-count":35,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T00:00:00Z","timestamp":1287014400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Schizencephaly is a malformation of cortical development characterized by gray matter\u2010lined clefts in the cerebral cortex and a range of neurological presentations. In some cases, there are features of septo\u2010optic dysplasia concurrently with schizencephaly. The etiologies of both schizencephaly and septo\u2010optic dysplasia are thought to be heterogeneous, but there is evidence that at least some cases have genetic origin. We hypothesized that these disorders may be caused by mutations in three candidate genes: <jats:italic>LHX2<\/jats:italic>, a gene with an important cortical patterning role, and <jats:italic>HESX1<\/jats:italic> and <jats:italic>SOX2<\/jats:italic>, genes that have been associated with septo\u2010optic dysplasia. We sequenced a large cohort of patients with schizencephaly, some with features of septo\u2010optic dysplasia, for mutations in these genes. No pathogenic mutations were observed, suggesting that other genes or non\u2010genetic factors influencing genes critical to brain development must be responsible for schizencephaly. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33684","type":"journal-article","created":{"date-parts":[[2010,10,14]],"date-time":"2010-10-14T16:33:30Z","timestamp":1287074010000},"page":"2736-2742","source":"Crossref","is-referenced-by-count":19,"title":["Candidate gene sequencing of <i>LHX2<\/i>, <i>HESX1<\/i>, and <i>SOX2<\/i> in a large schizencephaly cohort"],"prefix":"10.1002","volume":"152A","author":[{"given":"Cecilia","family":"Mellado","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annapurna","family":"Poduri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"Gleason","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Princess C.","family":"Elhosary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brenda J.","family":"Barry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer N.","family":"Partlow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard S.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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