Abstract：
OBJECTIVE: Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.
METHODS: We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.
RESULTS: Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.
CONCLUSIONS: In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.
METHODS: We retrospectively reviewed the medical records of patients with ES who were evaluated in the comprehensive epilepsy program at King Fahad Specialist Hospital Dammam between 2009 and 2022.
RESULTS: Our data show that in 57.7% of patients with ES, the etiology was unidentified after a standard clinical evaluation and neuroimaging. Of these patients, n = 25 (35.2%) received a genetic diagnosis after some form of genetic testing, and 3.1% of patients from specialized metabolic work indicated the need for genetic testing to confirm the diagnosis. Karyotyping led to a diagnosis in 3.6% of patients, and chromosomal microarray led to a diagnosis in 7.1%. An NGS epilepsy gene panel (EP) was done for 45 patients, leading to a diagnosis in 24.4% (n = 11). Exome sequencing was done for 27 patients, including n = 14 with non-diagnostic panel testing; it led to a diagnosis in 37.3% (n = 10). Exome sequencing led to a diagnosis in 61.5% of patients without a previous panel test and in only two patients who had previously had a negative panel testing.
CONCLUSIONS: In this article, we present the diagnostic evaluations of ES for a cohort of 123 patients and discuss the yield and priority of NGS for evaluating ES. Our findings suggest that exome sequencing has a higher diagnostic yield for determining the etiology of ES in patients for whom the etiology is still unclear after an appropriate clinical assessment and a brain MRI.
摘要：
目的：癫痫痉挛（ES）可由多种病因引起。然而,在几乎一半的案例中，病因不明。随着下一代测序（NGS）的出现，对遗传病因的认识有所增加。
方法：我们回顾性回顾了2009年至2022年在达曼国王法哈德专科医院接受全面癫痫项目评估的ES患者的医疗记录。
结果：我们的数据显示，在57.7％的ES患者中，经过标准的临床评估和神经影像学检查,病因不明.在这些病人中,n=25（35.2％）在进行某种形式的基因检测后接受了基因诊断，来自专业代谢工作的患者中有3.1％表示需要进行基因检测以确认诊断。染色体核型分析导致3.6%的患者诊断，和染色体微阵列导致7.1％的诊断。对45例患者进行了NGS癫痫基因面板(EP)检查，导致24.4%(n=11)的诊断。对27名患者进行了外显子组测序，包括n=14的非诊断小组测试;它导致了37.3%的诊断(n=10)。外显子组测序导致61.5%的患者没有先前的小组测试，只有两名患者先前的小组测试呈阴性。
结论：在本文中，我们介绍了123例患者的ES诊断评估,并讨论了NGS评估ES的结果和优先级.我们的发现表明，在经过适当的临床评估和脑部MRI检查后，病因尚不清楚的患者中，外显子组测序对于确定ES的病因具有更高的诊断率。
方法：我们回顾性回顾了2009年至2022年在达曼国王法哈德专科医院接受全面癫痫项目评估的ES患者的医疗记录。
结果：我们的数据显示，在57.7％的ES患者中，经过标准的临床评估和神经影像学检查,病因不明.在这些病人中,n=25（35.2％）在进行某种形式的基因检测后接受了基因诊断，来自专业代谢工作的患者中有3.1％表示需要进行基因检测以确认诊断。染色体核型分析导致3.6%的患者诊断，和染色体微阵列导致7.1％的诊断。对45例患者进行了NGS癫痫基因面板(EP)检查，导致24.4%(n=11)的诊断。对27名患者进行了外显子组测序，包括n=14的非诊断小组测试;它导致了37.3%的诊断(n=10)。外显子组测序导致61.5%的患者没有先前的小组测试，只有两名患者先前的小组测试呈阴性。
结论：在本文中，我们介绍了123例患者的ES诊断评估,并讨论了NGS评估ES的结果和优先级.我们的发现表明，在经过适当的临床评估和脑部MRI检查后，病因尚不清楚的患者中，外显子组测序对于确定ES的病因具有更高的诊断率。
