DEPDC5变异患者皮质发育不良切除术后癫痫控制结果:系统回顾和个体患者数据(IPD)分析。

IF 1.1 4区 医学 Q4 CLINICAL NEUROLOGY Neuropediatrics Pub Date : 2024-02-01 Epub Date: 2023-11-20 DOI:10.1055/a-2213-8584
Christopher McGinley, Saige Teti, Katherine Hofmann, John M Schreiber, Nathan T Cohen, William D Gaillard, Chima O Oluigbo
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引用次数: 0

摘要

导论:目前尚无足够的证据证明癫痫手术治疗耐药局灶性癫痫并共存DEPDC5致病性(P)、可能致病性(LP)或未知意义变异(VUS)的患者的疗效。目的:系统回顾有关癫痫手术干预DEPDC5变异患者耐药癫痫的应用及疗效的文献。方法:对目前发表的有关DEPDC5变异患者癫痫手术结果的文献进行系统回顾。记录和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著性。结果:本研究共纳入8篇文章,包括44例接受手术的DEPDC5基因变异患者。这些文章主要来自高收入国家(5/ 7,62.5%)。研究对象的平均年龄为10.06±9.41岁。最常见的癫痫手术形式是局灶性切除(38/44,86.4%)。40例患者中有37例(37/40,92.5%)癫痫发作频率有所改善。38例行局灶性切除的患者中有29例(29/38,78.4%)术后达到Engel Score I, 4例患者中有2例达到ILAE I(50%)。结论:癫痫手术治疗耐药局灶性癫痫并伴有DEPDC5致病、可能致病或VUS变异的患者是有效的。
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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.

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.

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来源期刊
Neuropediatrics
Neuropediatrics 医学-临床神经学
CiteScore
2.80
自引率
0.00%
发文量
94
审稿时长
>12 weeks
期刊介绍: For key insights into today''s practice of pediatric neurology, Neuropediatrics is the worldwide journal of choice. Original articles, case reports and panel discussions are the distinctive features of a journal that always keeps abreast of current developments and trends - the reason it has developed into an internationally recognized forum for specialists throughout the world. Pediatricians, neurologists, neurosurgeons, and neurobiologists will find it essential reading.
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