Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurosciences, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada.
Seizure. 2023 Apr;107:13-20. doi: 10.1016/j.seizure.2023.03.004. Epub 2023 Mar 12.
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.
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.
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.
Epilepsy surgery may be effective in some children with GATOR1 complex gene variants. Seizure outcomes may be compromised by extensive epileptogenic zones.
报告 GATOR1 基因复合物疾病儿童接受癫痫手术的癫痫发作结果，并进行系统文献检索以研究现有证据。
回顾了 GATOR1 基因复合物中致病性/可能致病性变异的儿童接受癫痫手术的记录。提取/总结了临床、放射学、神经生理学和组织学数据。系统评价包括所有病例系列报告和观察性研究，这些研究报告了具有局灶性癫痫伴/不伴局灶性皮质发育不良的儿童或成人中 GATOR1 复合物基因（DEPDC5、NPRL2、NPRL3）的遗传（种系或体细胞）变异的病例，分析了癫痫发作结果。
纳入了 8 名 GATOR1 复合物基因致病性/可能致病性变异的儿童。所有患儿均为耐药性癫痫。6 名患儿存在明显的神经发育迟缓。所有患儿均接受了癫痫手术；4 名患儿（50%）临床无癫痫发作。系统文献检索确定了 17 篇符合条件的文章；还研究了 30 例具有患者水平数据的病例。80%的病例可见病变性 MRI 脑。术后癫痫无发作率为 60%；IIa 型 FCD 是最常见的病理。
癫痫手术可能对一些 GATOR1 复合物基因突变的儿童有效。广泛的致痫区可能会影响癫痫发作结果。
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