Abstract：
This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by SLC2A1 genetic mutations and glucose transporter type 1 deficiency syndrome.
Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing. We analyzed the patients\' convulsions and treatment with antiepileptic drugs. The patients were followed up at different time periods after ketogenic diet therapies.
Six patients with SLC2A1 mutations were included in this study. The patients had seizures of different types and frequencies, and they took antiepileptic drugs to relieve their symptoms. They were then treated with a ketogenic diet for at least four months. We analyzed epilepsy control rates at 1, 2, 3, 6, and 12 months after ketogenic diet treatment. All patients were seizure-free within a month of receiving the diet therapy. All patients were followed up for six months, three were followed up for 12 months after the treatment, and there was no recurrence of epilepsy during this period. After antiepileptic drug withdrawal, none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone. No severe adverse events occurred during the therapy.
Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations. Therefore, patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.
Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an SLC2A1 genetic mutation on whole-exome sequencing. We analyzed the patients\' convulsions and treatment with antiepileptic drugs. The patients were followed up at different time periods after ketogenic diet therapies.
Six patients with SLC2A1 mutations were included in this study. The patients had seizures of different types and frequencies, and they took antiepileptic drugs to relieve their symptoms. They were then treated with a ketogenic diet for at least four months. We analyzed epilepsy control rates at 1, 2, 3, 6, and 12 months after ketogenic diet treatment. All patients were seizure-free within a month of receiving the diet therapy. All patients were followed up for six months, three were followed up for 12 months after the treatment, and there was no recurrence of epilepsy during this period. After antiepileptic drug withdrawal, none of the patients experienced seizure relapse when receiving ketogenic diet treatment alone. No severe adverse events occurred during the therapy.
Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by SLC2A1 mutations. Therefore, patients with glucose transporter type 1 deficiency syndrome caused by SLC2A1 mutations should begin ketogenic diet treatment as soon as possible.
摘要：
背景：这项回顾性研究评估了生酮饮食疗法在SLC2A1基因突变和1型葡萄糖转运蛋白缺乏综合征引起的癫痫患儿中的疗效和安全性。
方法：在2017年1月至2021年10月期间入住我们医疗中心的有癫痫症状的儿科患者，如果他们在全外显子组测序中出现SLC2A1基因突变，则纳入。我们分析了患者的抽搐和抗癫痫药物的治疗。在生酮饮食治疗后的不同时间段对患者进行随访。
结果：本研究包括6例SLC2A1突变患者。患者有不同类型和频率的癫痫发作，他们服用抗癫痫药物来缓解症状。然后用生酮饮食治疗他们至少四个月。我们分析了生酮饮食治疗后1、2、3、6和12个月的癫痫控制率。所有患者在接受饮食治疗后一个月内无癫痫发作。所有患者均随访6个月,3人在治疗后随访12个月，在此期间没有癫痫复发。抗癫痫药物停药后，在单独接受生酮饮食治疗时,没有患者出现癫痫发作复发.治疗期间无严重不良事件发生。
结论：生酮饮食疗法对于治疗由SLC2A1突变引起的癫痫非常有效和安全。因此,由SLC2A1突变引起的1型葡萄糖转运蛋白缺乏综合征患者应尽快开始生酮饮食治疗.
方法：在2017年1月至2021年10月期间入住我们医疗中心的有癫痫症状的儿科患者，如果他们在全外显子组测序中出现SLC2A1基因突变，则纳入。我们分析了患者的抽搐和抗癫痫药物的治疗。在生酮饮食治疗后的不同时间段对患者进行随访。
结果：本研究包括6例SLC2A1突变患者。患者有不同类型和频率的癫痫发作，他们服用抗癫痫药物来缓解症状。然后用生酮饮食治疗他们至少四个月。我们分析了生酮饮食治疗后1、2、3、6和12个月的癫痫控制率。所有患者在接受饮食治疗后一个月内无癫痫发作。所有患者均随访6个月,3人在治疗后随访12个月，在此期间没有癫痫复发。抗癫痫药物停药后，在单独接受生酮饮食治疗时,没有患者出现癫痫发作复发.治疗期间无严重不良事件发生。
结论：生酮饮食疗法对于治疗由SLC2A1突变引起的癫痫非常有效和安全。因此,由SLC2A1突变引起的1型葡萄糖转运蛋白缺乏综合征患者应尽快开始生酮饮食治疗.
