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Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

Authors
 Min Jung Cho  ;  Soon Sung Kwon  ;  Ara Ko  ;  Seung Tae Lee  ;  Young Mock Lee  ;  Heung Dong Kim  ;  Hee Jung Chung  ;  Se Hee Kim  ;  Joon Soo Lee  ;  Dae Sung Kim  ;  Hoon Chul Kang 
Citation
 JOURNAL OF CLINICAL NEUROLOGY, Vol.14(1) : 22-28, 2018 
Journal Title
JOURNAL OF CLINICAL NEUROLOGY
ISSN
 1738-6586 
Issue Date
2018
Keywords
Dravet syndrome ; SCN1A ; sodium channel alpha-1 subunit ; stiripentol
Abstract
BACKGROUND AND PURPOSE: The aim of this study was to determine the effectiveness of stiripentol (STP) add-on therapy to valproate and clobazam in patients with Dravet syndrome (DS) according to the presence of mutations in the sodium channel alpha-1 subunit gene (SCN1A). METHODS: We performed direct sequencing to analyze SCN1A mutations in 32 patients with clinically confirmed with DS, and classified them into mutation (pathogenic or likely pathogenic) and nonmutation groups based on American College of Medical Genetics and Genomics guidelines. We compared the efficacy of STP in reducing the seizure frequency between the two groups. RESULTS: The 32 patients comprised 15 patients in the mutation group (with definite SCN1A mutations) and 17 patients in the nonmutation group with variants of unknown significance or benign variants. The clinical profile did not differ significantly between the mutation and nonmutation groups. The seizure frequency relative to baseline reduced by 72.53+/-23.00% (mean+/-SD) in the mutation group versus 50.58+/-40.14% in the nonmutation group (p=0.004). The efficacy of STP was better in DS patients with missense mutations that in those with truncation mutations, and was not favorable in patients with mutations at linkers between domains (DII-DIII), linkers between segments of domain I (DI S1-S2), or splice sites, although the small number of patients prevented statistical analyses. CONCLUSIONS: The efficacy of STP was significantly better in DS patients with definite SCN1A mutations than in those without mutations.
Files in This Item:
T201704731.pdf Download
DOI
10.3988/jcn.2018.14.1.22
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
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
Ko, A Ra(고아라)
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, Seung-Tae(이승태) ORCID logo https://orcid.org/0000-0003-1047-1415
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
Cho, Min Jung(조민정)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/161822
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