Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628.

Data set from Monasky MM, Micaglio E, Vicedomini G, Locati ET, Ciconte G, Giannelli L, Giordano F, Crisà S, Vecchi M, Borrelli V, Ghiroldi A, D'Imperio S, Di Resta C, Benedetti S, Ferrari M, Santinelli V, Anastasia L, Pappone C. Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants. Europace. 2019 Oct 1;21(10):1550-1558. doi: 10.1093/europace/euz186. PMID: 31292628. This is the abstract: <strong>Aims: </strong>The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. <strong>Methods and results: </strong>Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. <strong>Conclusion: </strong>Future studies are warranted to further characterize the role of these specific SCN10A variants.本数据集来源于Monasky MM、Micaglio E、Vicedomini G、Locati ET、Ciconte G、Giannelli L、Giordano F、Crisà S、Vecchi M、Borrelli V、Ghiroldi A、D'Imperio S、Di Resta C、Benedetti S、Ferrari M、Santinelli V、Anastasia L、Pappone C的研究成果：《携带SCN5A或新型SCN10A变异的布鲁加达综合征患者临床特征可比》，发表于《Europace》2019年10月1日，第21卷第10期，页码1550-1558，DOI: 10.1093/europace/euz186，PMID: 31292628。以下为该研究摘要： <strong>研究目的：</strong>布鲁加达综合征（Brugada syndrome, BrS）是一类与心源性猝死风险升高相关的遗传性疾病，多数患者的遗传病因仍未明确。究其原因，至少部分在于编码NaV1.8蛋白的SCN10A基因在中枢与外周神经系统的表达水平显著高于心脏，因此绝大多数心脏遗传学中心未将该基因纳入心律失常/心源性猝死诊断检测套餐。 <strong>方法与结果：</strong>本研究对携带SCN5A变异或新型SCN10A变异的布鲁加达综合征患者的临床特征进行了评估。采用下一代测序（Next Generation Sequencing）技术对基因组DNA开展基因检测。结果显示，携带新型SCN10A变异与携带SCN5A变异的布鲁加达综合征患者，其临床特征（包括致心律失常底物）无显著差异；两类先证者在性别、年龄、心搏骤停/晕厥个人史、自发性布鲁加达综合征心电图表现、心源性猝死家族史以及致心律失常底物等方面均无统计学差异。 <strong>结论：</strong>未来需开展进一步研究以明确此类特定SCN10A变异的具体致病作用。