{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T10:26:47Z","timestamp":1756463207498},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,3,13]],"date-time":"2020-03-13T00:00:00Z","timestamp":1584057600000},"content-version":"vor","delay-in-days":41,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n          <jats:p>\n            Early infantile epileptic encephalopathy type 28 is a refractory epilepsy with early onset, poor prognosis, and hereditary causes. WW domain\u2010containing oxidoreductase (\n            <jats:italic>WWOX<\/jats:italic>\n            ) gene mutation can result in epileptic encephalopathy, but the mechanism remains unclear. We present the case of a patient with epilepsy and\n            <jats:italic>WWOX<\/jats:italic>\n            compound heterozygous mutations. The seizures manifested as tonic\u2010clonic, convulsive and were refractory to drugs. Magnetic resonance imaging showed a widened subarachnoid space and thin corpus callosum. The patient died from asphyxia at the age of one year and 23 days. Peripheral blood was taken from the patient and his parents, and whole\u2010exome sequencing was investigated to determine possible gene mutation. Two compound heterozygous mutations were identified: c.172+1G&gt;C (with no amino acid change) and c.984C&gt;G (amino acid change: p.Tyr328Ter). The pathophysiology of epileptic encephalopathy related to the\n            <jats:italic>WWOX<\/jats:italic>\n            gene remains to be determined, and further studies are required to elucidate possible mechanisms.\n          <\/jats:p>","DOI":"10.1684\/epd.2020.1131","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T14:59:48Z","timestamp":1711551588000},"page":"120-124","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A Chinese patient with epilepsy and\n            <i>WWOX<\/i>\n            compound heterozygous mutations"],"prefix":"10.1002","volume":"22","author":[{"given":"Jing","family":"He","sequence":"first","affiliation":[{"name":"Department of Epilepsy Center Tsinghua University Yuquan Hospital  Shijingshan District Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Center Tsinghua University Yuquan Hospital  Shijingshan District Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Center Tsinghua University Yuquan Hospital  Shijingshan District Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Center Tsinghua University Yuquan Hospital  Shijingshan District Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haixiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Center Tsinghua University Yuquan Hospital  Shijingshan District Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,3,13]]},"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":"10.1073\/pnas.0609783104"},{"issue":"8","key":"e_1_2_8_4_1","first-page":"2140","article-title":"WWOX, a novel WW domain\u2010containing protein mapping to human chromosome 16q23.3\u201024.1, a region frequently affected in breast cancer","volume":"60","author":"Bednarek A.K.","year":"2000","journal-title":"Cancer Res"},{"issue":"22","key":"e_1_2_8_5_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_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-014-0463-8"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroscience.2003.12.036"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22298"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1515\/tnsci-2018-0029"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm078"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt338"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102748"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/1535370214561952"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fonc.2018.00420"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2020.1131","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T16:46:19Z","timestamp":1711557979000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2020.1131"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1684\/epd.2020.1131"],"URL":"https:\/\/doi.org\/10.1684\/epd.2020.1131","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"2019-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}