0 55

Cited 0 times in

Mowat-Wilson syndrome presenting with fever-associated seizures

Authors
 Se Eun Seo  ;  Se Hee Kim  ;  Seung Tae Lee  ;  Jong Rak Choi  ;  Joon Soo Lee  ;  Heung Dong Kim  ;  Hoon-Chul Kang 
Citation
 Epileptic Disorders, Vol.19(4) : 481-485, 2017 
Journal Title
 Epileptic Disorders 
ISSN
 1294-9361 
Issue Date
2017
Keywords
Mowat-Wilson syndrome ; ZEB2 ; epilepsy ; febrile seizure ; next-generation sequencing
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.
Full Text
http://www.jle.com/fr/revues/epd/e-docs/mowat_wilson_syndrome_presenting_with_fever_associated_seizures_310998/article.phtml
DOI
10.1684/epd.2017.0949
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
강훈철(Kang, Hoon Chul) ORCID logo https://orcid.org/0000-0002-3659-8847
김세희(Kim, Se Hee) ORCID logo https://orcid.org/0000-0001-7773-1942
김흥동(Kim, Heung Dong) ORCID logo https://orcid.org/0000-0002-8031-7336
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
이준수(Lee, Joon Soo) ORCID logo https://orcid.org/0000-0001-9036-9343
최종락(Choi, Jong Rak) ORCID logo https://orcid.org/0000-0002-0608-2989
Export
RIS (EndNote)
XLS (Excel)
XML
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161650
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse