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드라베 증후군의 SCN1A 유전자 변이 양상

Other Titles
 SCN1A Variants in Patients with Dravet Syndrome 
Authors
 조민정  ;  권순성  ;  이승태  ;  김흥동  ;  정희정  ;  이준수  ;  이영목  ;  김세희  ;  강훈철 
Citation
 Journal of the Korean Child Neurology Society, Vol.25(1) : 9-12, 2017 
Journal Title
Journal of the Korean Child Neurology Society(대한소아신경학회지)
ISSN
 1226-6884 
Issue Date
2017
Keywords
Dravet syndrome ; SCN1A mutation
Abstract
Purpose: The aim of this study is to examine the SCN1A variants in Korean patients with Dravet syndrome.

Methods: We conducted a retrospective study of clinically confirmed thirty-nine patients with Dravet syndrome who visit our hospital from January 2007 to May 2015. We analyzed the SCN1A variants by direct sequencing. We analyzed and classified SCN1A variants according to ACMG/AMP (American College of Medical Genetics and Genomics and the Association for Molecular Pathology) guideline.

Results: : A total thirty-nine patients (female 22, male 17) were included. Among them, twenty patients (51.2%) with Dravet syndrome had pathogenic or likely pathogenic SCN1A mutations including fifteen truncating mutations (12 nonsense and 3 splice region mutations), 5 missense mutations. The remained variants in nineteen patients with Dravet syndrome classified into ten variants of unknown significances, and 9 benign variants. In our study, truncation mutations are located whole span of SCN1A protein, while half of missense mutations are located at higher density on pore loop (S5-S6) regions

Conclusion: Unlike previous known study, lower positive rate of SCN1A mutation of Dravet syndrome was revealed in our study. The importance of parental test (trio test) and other additional tests have been emphasized.
Files in This Item:
T201703558.pdf Download
DOI
10.26815/jkcns.2017.25.1.9
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Se Hee(김세희) ORCID logo https://orcid.org/0000-0001-7773-1942
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Joon Soo(이준수) ORCID logo https://orcid.org/0000-0001-9036-9343
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160900
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