Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20–30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis is important to treat and manage this disease. In this study, we have recruited 43 epileptic encephalopathy patients and the molecular genetic analysis of those children was performed by whole-exome sequencing (WES). Fourteen patients (32.6%, 14/43) had positive genetic diagnoses, including fifteen mutations in fourteen genes. The overall diagnostic yield was 32.6%. A total of 9 patients were diagnosed as pathogenic mutations, including 4 variants had been reported as pathogenic previously and 6 novel variants that had not been reported previously. Therefore, WES heralds promise as a tool for clinical diagnosis of patients with genetic disease. Early establishment of a specific diagnosis, on the one hand, is necessary for providing an accurate prognosis and recurrence risk as well as optimizing management and treatment options. On the other hand, to unveil the genetic architecture of epilepsy, it is of vital importance to investigate the phenotypic and genetic complexity of epilepsy.

中文翻译：

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全外显子组测序鉴定 43 名癫痫患者的致病变异

癫痫是一组以反复癫痫发作为特征的神经系统疾病。癫痫受多种因素影响，大约20-30%的病例是由获得性疾病引起的，但在其余病例中，遗传因素起着重要作用。早期建立特定诊断对于治疗和管理这种疾病很重要。在这项研究中，我们招募了 43 名癫痫性脑病患者，并通过全外显子组测序 (WES) 对这些儿童进行了分子遗传学分析。14 名患者 (32.6%, 14/43) 具有阳性基因诊断，包括 14 个基因的 15 个突变。总诊断率为 32.6%。共有9名患者被诊断为致病性突变，包括 4 个先前已报告为致病性的变异和 6 个先前未报告的新变异。因此，WES 预示有望成为遗传病患者临床诊断的工具。一方面，早期建立特定诊断对于提供准确的预后和复发风险以及优化管理和治疗方案是必要的。另一方面，为了揭示癫痫的遗传结构，研究癫痫的表型和遗传复杂性至关重要。