{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:16:40Z","timestamp":1777803400203,"version":"3.51.4"},"reference-count":11,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2010,9,10]],"date-time":"2010-09-10T00:00:00Z","timestamp":1284076800000},"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":[[2011,2]]},"abstract":"<jats:p>Deletions of chromosome 17p13.3 result in neuronal migration defects such as isolated lissencephaly sequence and Miller-Dieker syndrome. LIS1 is the deleted gene within this region and is thought to directly cause isolated lissencephaly sequence and contribute to Miller-Dieker syndrome. Two additional genes (14-3-3\u03b5 and CRK) on the telomeric end of chromosome 17p reportedly contribute to the severe phenotype of Miller-Dieker syndrome. We report 2 patients with deletions of chromosome 17p13.3 involving the genes 14-3-3\u03b5 and CRK but not LIS1 with previously unreported, identical phenotypes of macrocephaly, small stature, dysmorphic features, generalized epilepsy, developmental delay, and nonspecific white matter changes. The findings in this report suggest that patients who have deletions of 14-3-3\u03b5 and\/or CRK should be monitored closely for the development of seizures.<\/jats:p>","DOI":"10.1177\/0883073810379638","type":"journal-article","created":{"date-parts":[[2010,9,10]],"date-time":"2010-09-10T23:08:48Z","timestamp":1284160128000},"page":"223-227","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":22,"title":["Deletion of\n                    <i>14-3-3\u03b5<\/i>\n                    and\n                    <i>CRK<\/i>\n                    : A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy"],"prefix":"10.1177","volume":"26","author":[{"given":"Jeffrey R.","family":"Tenney","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, Ohio,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Hopkin","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark B.","family":"Schapiro","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, and University of Cincinnati College of Medicine, Cincinnati, Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,9,10]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg086"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00888.x"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1086\/374320"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1169"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4652(199812)177:4<535::AID-JCP5>3.0.CO;2-E"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20537"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.016865"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30188"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067637"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1576"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2002.19498.x"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810379638","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073810379638","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:08Z","timestamp":1777494968000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073810379638"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,10]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["10.1177\/0883073810379638"],"URL":"https:\/\/doi.org\/10.1177\/0883073810379638","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,10]]}}}