Table_4_Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.XLSX

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology.Methods: Deep targeted sequencing with a custom-designed capture probe was performed to ensure the detection of germline or mosaic sequence variants and copy number variations (CNVs).Results: We identified pathogenic or likely pathogenic variants in 53 patients (47.3%, 53/112), including five with pathogenic CNVs. Two putative pathogenic mosaic variants in SCN8A and KCNQ2 were also detected and validated. Those with neonatal onset (61.5%, 16/26) or early infantile onset (50.0%, 29/58) showed higher diagnostic rates than those with late infantile onset (28.5%, 8/28). The diagnostic rate was similar between patients with a specific syndrome (51.9%, 27/52) and those with no recognizable syndrome (43.3%, 26/60).Conclusion: Epilepsy gene panel testing identified a genetic cause in nearly half of the infantile onset epilepsy patients. Since the phenotypic spectrum is expanding and characterizing it at seizure onset is difficult, this group should be prioritized for epilepsy gene panel testing.

目的：本研究旨在评估癫痫基因检测面板对出生后一年内开始发作的癫痫患者的诊断产出的影响。纳入了112名在12个月前开始发作且无已知病因的患者。方法：通过定制捕获探针进行的深度靶向测序，以确保检测到基因型或镶嵌型序列变异以及拷贝数变异（CNVs）。结果：在53名患者中（47.3%，53/112）识别出致病或可能致病的变异，包括5例致病拷贝数变异。还检测并验证了SCN8A和KCNQ2中的两种假设致病性镶嵌变异。新生儿期（61.5%，16/26）或早期婴儿期（50.0%，29/58）发病的患者诊断率高于晚期婴儿期（28.5%，8/28）的患者。具有特定综合征（51.9%，27/52）的患者与无可识别综合征（43.3%，26/60）的患者诊断率相似。结论：癫痫基因检测面板在近一半的婴儿期发病癫痫患者中识别出了遗传原因。鉴于表型谱正在扩大，且在发作时对其进行表征困难，因此该群体应优先进行癫痫基因检测面板测试。