Abstract：
OBJECTIVE: To report seizure outcomes in children with GATOR1 gene complex disorders who underwent epilepsy surgery and perform a systematic literature search to study the available evidence.
METHODS: The records of children with pathogenic/likely pathogenic variants in GATOR1 gene complex who underwent epilepsy surgery were reviewed. Clinical, radiological, neurophysiological, and histological data were extracted/summarized. The systematic review included all case series/reports and observational studies reporting on children or adults with genetic (germline or somatic) variants in the GATOR1 complex genes (DEPDC5, NPRL2, NPRL3) with focal epilepsy with/without focal cortical dysplasia who underwent epilepsy surgery; seizure outcomes were analyzed.
RESULTS: Eight children with pathogenic/likely pathogenic variants in GATOR1 complex genes were included. All had drug-resistant epilepsy. Six children had significant neurodevelopmental delay. Epilepsy surgery was performed in all; clinical seizure freedom was noted in 4 children (50%). Systematic literature search identified 17 eligible articles; additional 30 cases with patient-level data were studied. Lesional MRI brain was seen in 80% cases. The pooled rate of seizure freedom following surgery was 60%; FCD IIa was the most encountered pathology.
CONCLUSIONS: Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.
METHODS: The records of children with pathogenic/likely pathogenic variants in GATOR1 gene complex who underwent epilepsy surgery were reviewed. Clinical, radiological, neurophysiological, and histological data were extracted/summarized. The systematic review included all case series/reports and observational studies reporting on children or adults with genetic (germline or somatic) variants in the GATOR1 complex genes (DEPDC5, NPRL2, NPRL3) with focal epilepsy with/without focal cortical dysplasia who underwent epilepsy surgery; seizure outcomes were analyzed.
RESULTS: Eight children with pathogenic/likely pathogenic variants in GATOR1 complex genes were included. All had drug-resistant epilepsy. Six children had significant neurodevelopmental delay. Epilepsy surgery was performed in all; clinical seizure freedom was noted in 4 children (50%). Systematic literature search identified 17 eligible articles; additional 30 cases with patient-level data were studied. Lesional MRI brain was seen in 80% cases. The pooled rate of seizure freedom following surgery was 60%; FCD IIa was the most encountered pathology.
CONCLUSIONS: Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.
摘要：
目的：报告接受癫痫手术的GATOR1基因复合疾病患儿的癫痫发作结局，并进行系统的文献检索以研究现有证据。
方法：回顾了GATOR1基因复合体中具有致病/可能致病变异的儿童接受癫痫手术的记录。临床,放射学,神经生理学，和组织学数据进行提取/总结。系统评价包括所有病例系列/报告和观察性研究报告的儿童或成人在GATOR1复合物基因（DEPDC5，NPRL2，NPRL3）中具有遗传（种系或体细胞）变异的儿童或成人伴/不伴局灶性皮质发育不良，接受癫痫手术；分析癫痫发作结果。
结果：纳入了8名在GATOR1复合体基因中具有致病/可能致病变异的儿童。所有患者均患有耐药性癫痫。六个孩子有明显的神经发育迟缓。全部进行了癫痫手术；4名儿童（50％）没有临床癫痫发作。系统的文献检索确定了17篇合格的文章；研究了另外30例具有患者水平数据的病例。80％的病例可见病灶MRI。手术后无癫痫发作的合并率为60％；FCDIIa是最常见的病理。
结论：癫痫手术可能对一些GATOR1复合基因变异的儿童有效。癫痫发作的结果可能会受到广泛的癫痫区的影响。
方法：回顾了GATOR1基因复合体中具有致病/可能致病变异的儿童接受癫痫手术的记录。临床,放射学,神经生理学，和组织学数据进行提取/总结。系统评价包括所有病例系列/报告和观察性研究报告的儿童或成人在GATOR1复合物基因（DEPDC5，NPRL2，NPRL3）中具有遗传（种系或体细胞）变异的儿童或成人伴/不伴局灶性皮质发育不良，接受癫痫手术；分析癫痫发作结果。
结果：纳入了8名在GATOR1复合体基因中具有致病/可能致病变异的儿童。所有患者均患有耐药性癫痫。六个孩子有明显的神经发育迟缓。全部进行了癫痫手术；4名儿童（50％）没有临床癫痫发作。系统的文献检索确定了17篇合格的文章；研究了另外30例具有患者水平数据的病例。80％的病例可见病灶MRI。手术后无癫痫发作的合并率为60％；FCDIIa是最常见的病理。
结论：癫痫手术可能对一些GATOR1复合基因变异的儿童有效。癫痫发作的结果可能会受到广泛的癫痫区的影响。
