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Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations

 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 
 Journal of Clinical Neurology, Vol.14(1) : 22-28, 2018 
Journal Title
 Journal of Clinical Neurology 
Issue Date
Dravet syndrome ; SCN1A ; sodium channel alpha-1 subunit ; stiripentol
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.
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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
고아라(Ko, A Ra)
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
이영목(Lee, Young Mock) ORCID logo https://orcid.org/0000-0002-5838-249X
이준수(Lee, Joon Soo) ORCID logo https://orcid.org/0000-0001-9036-9343
조민정(Cho, Min Jung)
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