{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T15:48:28Z","timestamp":1772120908317,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T00:00:00Z","timestamp":1571875200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>\n                    Defects of WW domain\u2010containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early\u2010onset epileptic encephalopathy. The mutations in this gene can lead to global developmental delay, acquired microcephaly, and epilepsy. We report an infant with an autosomal recessive severe early\u2010onset epileptic encephalopathy. Whole exome sequencing analysis was applied to the patient. Novel compound heterozygous mutations in the\n                    <jats:italic>WWOX<\/jats:italic>\n                    gene, c.173\u20102A\u2009&gt;\u2009G and c.775\u2009T\u2009&gt;\u2009C (p.Ser259Pro), were identified. The present study expands our knowledge of\n                    <jats:italic>WWOX<\/jats:italic>\n                    mutations and related phenotypes, and provides new information on the genetic defects associated with this disease for clinical diagnosis.\n                  <\/jats:p>","DOI":"10.1016\/j.ijdevneu.2019.10.003","type":"journal-article","created":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T12:12:01Z","timestamp":1571919121000},"page":"45-48","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Novel compound heterozygous mutations in the\n                    <i>WWOX<\/i>\n                    gene cause early infantile epileptic encephalopathy"],"prefix":"10.1002","volume":"79","author":[{"given":"Chengqing","family":"Yang","sequence":"first","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenfeng","family":"Song","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhi","family":"Yi","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Li","sequence":"additional","affiliation":[{"name":"Pediatric Department of the Affiliated Hospital of Qingdao University No. 16 Jiangsu Road Shandong 266000 PR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,10,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-12"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2008-1087"},{"issue":"22","key":"e_1_2_8_4_1","first-page":"8068","article-title":"WWOX, the FRA16D gene, behaves as a suppressor of tumor growth","volume":"61","author":"Bednarek A.K.","year":"2001","journal-title":"Cancer Res."},{"key":"e_1_2_8_5_1","first-page":"1","article-title":"A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy","volume":"56","author":"Ben\u2010Salem S.","year":"2014","journal-title":"J. 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