{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:45:25Z","timestamp":1700570725990},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,7]],"date-time":"2012-02-07T00:00:00Z","timestamp":1328572800000},"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":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Periventricular heterotopia (PH), clumps of neurons mislocated beside the ventricle, is caused by failure to initiate migration during embryogenesis. We report on a 32\u2010month\u2010old Japanese girl with a unique subtype of PH, namely ribbon\u2010like PH. The patient presented with severe psychomotor developmental delay, intractable epilepsy, and congenital cataracts and developed West syndrome phenotype. Brain magnetic resonance imaging revealed a unique undulating form of PH, categorized as ribbon\u2010like PH, and other brain malformations including simplified gyri and dysgenesis of the corpus callosum. There was no evidence of prenatal TORCH infection or associated syndrome. Array\u2010based comparative genomic hybridization revealed no chromosomal rearrangements. Genetic analyses of the <jats:italic>FLNA<\/jats:italic>, <jats:italic>DCX<\/jats:italic>, <jats:italic>ARX<\/jats:italic>, <jats:italic>LIS1<\/jats:italic>, and <jats:italic>TUBA1A<\/jats:italic> genes showed no mutations. Although little is known about ribbon\u2010like PH, the clinical manifestations in our patient clearly differed from those in other reported patients. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34258","type":"journal-article","created":{"date-parts":[[2012,2,7]],"date-time":"2012-02-07T21:30:05Z","timestamp":1328650205000},"page":"674-677","source":"Crossref","is-referenced-by-count":1,"title":["Unusual ribbon\u2010like periventricular heterotopia with congenital cataracts in a Japanese girl"],"prefix":"10.1002","volume":"158A","author":[{"given":"Rie","family":"Tsuburaya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsugu","family":"Uematsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuo","family":"Kikuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naomi","family":"Hino\u2010Fukuyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Kunishima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiro","family":"Haginoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeru","family":"Tsuchiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,2,7]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183747.05269.2d"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2009.02.008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2007.10.003"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg086"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050963"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.114"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2005.05.001"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1128\/JCM.38.7.2536-2542.2000"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl125"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20572"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34258","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:01:41Z","timestamp":1700568101000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,7]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.34258"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34258","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,7]]}}}