Objective Epilepsy is a chronic neurological disorder related to various etiologies and the prevalence of active epilepsy is estimated to be between 4-10 per 1000 individuals having a significant role of genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, still, a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple Variants of Uncertain Significance (VUSs).

中文翻译：

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先前定义的意义不确定的变异可能在癫痫中发挥重要作用，并且某些变异之间的相互作用可能会致病

目的癫痫是一种与多种病因相关的慢性神经系统疾病，活动性癫痫的患病率估计为每 1000 人 4-10 人，其中基因突变具有显着作用。下一代测序（NGS）面板用于基因检测，但仍有很大一部分结果仍不确定，并且不被认为是癫痫的直接病因。本研究旨在重新评估使用 NGS 组合进行基因调查的诊断为癫痫的儿科患者，重点关注不确定的变异发现或多个意义不确定的变异 (VUS)。