Abstract:
There is insufficient evidence regarding the efficacy of epilepsy surgery in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 (dishevelled EGL-10 and pleckstrin domain-containing protein 5) pathogenic (P), likely pathogenic (LP), or variance of unknown significance (VUS) variants. To conduct a systematic review on the literature regarding the use and efficacy of epilepsy surgery as an intervention for patients with DEPDC5 variants who have pharmacoresistant epilepsy. A systematic review of the current literature published regarding the outcomes of epilepsy surgery for patients with DEPDC5 variants was conducted. Demographics and individual patient data were recorded and analyzed. Subsequent statistical analysis was performed to assess significance of the findings. A total of eight articles comprising 44 DEPDC5 patients with genetic variants undergoing surgery were included in this study. The articles primarily originated in high-income countries (5/8, 62.5%). The average age of the subjects was 10.06 ± 9.41 years old at the time of study. The most common form of epilepsy surgery was focal resection (38/44, 86.4%). Thirty-seven of the 40 patients (37/40, 92.5%) with reported seizure frequency results had improvement. Twenty-nine out of 38 patients (29/38, 78.4%) undergoing focal resection achieved Engel Score I postoperatively, and two out of four patients achieved International League Against Epilepsy I (50%). Epilepsy surgery is effective in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 P, LP, or VUS variants.
摘要:
背景:关于药物耐药性局灶性癫痫和共存的DEPDC5(不均匀的EGL-10和含pleckstrin结构域的蛋白5)致病性(P)患者的癫痫手术疗效的证据不足,可能致病(LP),或未知显著性差异(VUS)变异。
目的:对有关癫痫手术作为DEPDC5变异型药物耐药性癫痫患者干预措施的使用和疗效的文献进行系统评价。
方法:对目前发表的关于DEPDC5变异患者癫痫手术转归的文献进行系统评价。记录并分析人口统计学和个体患者数据。随后进行统计分析以评估结果的显著性。
结果:本研究共纳入8篇文章,包括44例DEPDC5遗传变异患者接受手术。这些文章主要起源于高收入国家(5/8,62.5%)。研究时受试者的平均年龄为10.06±9.41岁。癫痫手术最常见的形式是局灶性切除术(38/44,86.4%)。40例患者中有37例(37/40,92.5%)报告癫痫发作频率结果有所改善。38例患者中有29例(29/38,78.4%)在术后获得了Engel评分I,四分之一的患者获得了国际抗癫痫联赛I(50%)。
结论:癫痫手术对药物耐药性局灶性癫痫和DEPDC5P共存的患者有效,LP,或VUS变体。