{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:33:53Z","timestamp":1761514433342},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,1,26]],"date-time":"2018-01-26T00:00:00Z","timestamp":1516924800000},"content-version":"vor","delay-in-days":56,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Mowat\u2010Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E\u2010box\u2010binding homeobox 2 (<jats:italic>ZEB2<\/jats:italic>) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever\u2010triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito\u2010urinary anomalies consistent with MWS. By performing targeted next\u2010generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c.1965C&gt;A) in the <jats:italic>ZEB2<\/jats:italic> gene of one patient and a frameshift mutation (c.2348dupC) in the other patient. Fever\u2010induced seizures can be presenting signs of MWS. MWS should be considered in the differential diagnosis of fever\u2010induced seizures, especially when the patient has distinctive facial features and multiple anomalies, including cardiac, genito\u2010urinary, and eye defects.<\/jats:p>","DOI":"10.1684\/epd.2017.0949","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"481-485","source":"Crossref","is-referenced-by-count":3,"title":["Mowat\u2010Wilson syndrome presenting with fever\u2010associated seizures"],"prefix":"10.1002","volume":"19","author":[{"given":"Se Eun","family":"Seo","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital Yonsei University College of Medicine Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Se Hee","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital Yonsei University College of Medicine Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seung Tae","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Yonsei University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jong Rak","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Yonsei University College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joon Soo","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital Yonsei University College of Medicine Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heung Dong","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital Yonsei University College of Medicine Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoon\u2010Chul","family":"Kang","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital Yonsei University College of Medicine Seoul"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,1,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.12.006"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814535501"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35717"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-42"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32693"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_8_8_1","first-page":"949507","article-title":"Mowat\u2010Wilson syndrome: the first clinical and molecular report of an Indonesian patient","volume":"2012","author":"Mundhofir F.E.","year":"2012","journal-title":"Case Rep Genet"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.07.067"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2017.0949","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:12:47Z","timestamp":1710778367000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2017.0949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1684\/epd.2017.0949"],"URL":"https:\/\/doi.org\/10.1684\/epd.2017.0949","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12]]}}}