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Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis
Neuropediatrics ( IF 1.4 ) Pub Date : 2023-12-23 , DOI: 10.1055/a-2213-8584
Christopher McGinley 1 , Saige Teti 2 , Katherine Hofmann 2 , John M Schreiber 3 , Nathan T Cohen 3 , William D Gaillard 2 , Chima O Oluigbo 2
Affiliation  

Introduction 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.

Objective 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.

Methods 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.

Results 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%).

Conclusion Epilepsy surgery is effective in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 P, LP, or VUS variants.



中文翻译:

DEPDC5 变异患者皮质发育不良切除后癫痫发作控制结果:系统评价和个体患者数据分析

引言 关于癫痫手术对于耐药性局灶性癫痫和共存 DEPDC5(蓬乱的 EGL-10 和含普莱克斯特林结构域的蛋白 5)致病性 (P)、可能致病性 (LP) 或未知意义方差的患者的疗效,没有足够的证据( VUS)变体。

目的 对关于癫痫手术作为 DEPDC5 变异耐药性癫痫患者干预措施的使用和疗效的文献进行系统回顾。

方法 对当前发表的有关 DEPDC5 变异患者癫痫手术结果的文献进行了系统回顾。记录并分析人口统计数据和个体患者数据。随后进行统计分析以评估研究结果的显着性。

结果 本研究共纳入 8 篇文章,包括 44 例接受手术的携带遗传变异的 DEPDC5 患者。这些文章主要源自高收入国家(5/8,62.5%)。研究时受试者的平均年龄为 10.06 ± 9.41 岁。最常见的癫痫手术形式是局灶切除术(38/44,86.4%)。报告癫痫发作频率结果的 40 名患者中有 37 名(37/40,92.5%)有所改善。38例接受病灶切除的患者中,29例(29/38,78.4%)术后达到恩格尔评分I级,四分之二的患者达到国际抗癫痫联盟I级(50%)。

结论 癫痫手术对于耐药局灶性癫痫和共存 DEPDC5 P、LP 或 VUS 变异的患者有效。

更新日期:2023-12-24
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