SCN1A Variants in Patients with Dravet Syndrome.
- Author:
Min Jung CHO
1
;
Soon Sung KWON
;
Seung Tae LEE
;
Heung Dong KIM
;
Hee Jung CHUNG
;
Joon Soo LEE
;
Young Mock LEE
;
Se Hee KIM
;
Hoon Chul KANG
Author Information
1. Divison of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Epilepsy Research Institute, Seoul, Korea. hipo0207@yuhs.ac
- Publication Type:Original Article
- Keywords:
Dravet syndrome;
SCN1A mutation
- MeSH:
Epilepsies, Myoclonic*;
Genetics, Medical;
Genomics;
Humans;
Male;
Mutation, Missense;
Parents;
Retrospective Studies
- From:
Journal of the Korean Child Neurology Society
2017;25(1):9-12
- CountryRepublic of Korea
- Language:Korean
-
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.
