Cited 3 times in
Mowat-Wilson syndrome presenting with fever-associated seizures
DC Field | Value | Language |
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dc.contributor.author | 강훈철 | - |
dc.contributor.author | 김세희 | - |
dc.contributor.author | 김흥동 | - |
dc.contributor.author | 이승태 | - |
dc.contributor.author | 이준수 | - |
dc.contributor.author | 최종락 | - |
dc.date.accessioned | 2018-07-20T12:01:17Z | - |
dc.date.available | 2018-07-20T12:01:17Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 1294-9361 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161650 | - |
dc.description.abstract | Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) 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-triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito-urinary anomalies consistent with MWS. By performing targeted next-generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c.1965C>A) in the ZEB2 gene of one patient and a frameshift mutation (c.2348dupC) in the other patient. Fever-induced seizures can be presenting signs of MWS. MWS should be considered in the differential diagnosis of fever-induced seizures, especially when the patient has distinctive facial features and multiple anomalies, including cardiac, genito-urinary, and eye defects. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | John Libbey Eurotext | - |
dc.relation.isPartOf | EPILEPTIC DISORDERS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | Mowat-Wilson syndrome presenting with fever-associated seizures | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Se Eun Seo | - |
dc.contributor.googleauthor | Se Hee Kim | - |
dc.contributor.googleauthor | Seung Tae Lee | - |
dc.contributor.googleauthor | Jong Rak Choi | - |
dc.contributor.googleauthor | Joon Soo Lee | - |
dc.contributor.googleauthor | Heung Dong Kim | - |
dc.contributor.googleauthor | Hoon-Chul Kang | - |
dc.identifier.doi | 10.1684/epd.2017.0949 | - |
dc.contributor.localId | A00102 | - |
dc.contributor.localId | A00611 | - |
dc.contributor.localId | A01208 | - |
dc.contributor.localId | A04627 | - |
dc.contributor.localId | A03177 | - |
dc.contributor.localId | A04182 | - |
dc.relation.journalcode | J00797 | - |
dc.identifier.eissn | 1950-6945 | - |
dc.identifier.pmid | 29258970 | - |
dc.identifier.url | http://www.jle.com/fr/revues/epd/e-docs/mowat_wilson_syndrome_presenting_with_fever_associated_seizures_310998/article.phtml | - |
dc.subject.keyword | Mowat-Wilson syndrome | - |
dc.subject.keyword | ZEB2 | - |
dc.subject.keyword | epilepsy | - |
dc.subject.keyword | febrile seizure | - |
dc.subject.keyword | next-generation sequencing | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.alternativeName | Kim, Se Hee | - |
dc.contributor.alternativeName | Kim, Heung Dong | - |
dc.contributor.alternativeName | Lee, Seung-Tae | - |
dc.contributor.alternativeName | Lee, Joon Soo | - |
dc.contributor.alternativeName | Choi, Jong Rak | - |
dc.contributor.affiliatedAuthor | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | Kim, Se Hee | - |
dc.contributor.affiliatedAuthor | Kim, Heung Dong | - |
dc.contributor.affiliatedAuthor | Lee, Seung-Tae | - |
dc.contributor.affiliatedAuthor | Lee, Joon Soo | - |
dc.contributor.affiliatedAuthor | Choi, Jong Rak | - |
dc.citation.volume | 19 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 481 | - |
dc.citation.endPage | 485 | - |
dc.identifier.bibliographicCitation | EPILEPTIC DISORDERS, Vol.19(4) : 481-485, 2017 | - |
dc.identifier.rimsid | 61673 | - |
dc.type.rims | ART | - |
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