Ketogenic diet therapy in children with epilepsy caused by SLC2A1 mutations:a single-center single-arm retrospective study  

作　　者：Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan Shen Hao Li Ji-Wen Wang 

机构地区：[1]Department of Neurology,Shanghai Children’s Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai,China [2]Department of Infectious Diseases,Shanghai Children’s Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai,China [3]Clinical Research Ward,Clinical Research Center,Shanghai Children’s Medical Center,School of Medicine,Shanghai Jiao Tong University,Shanghai,China

出　　处：《World Journal of Pediatrics》2024年第5期517-524,共8页世界儿科杂志（英文版）

基　　金：supported by grants from National Key R&D Program of China(2019YFA0801900);Epilepsy Research Fund of China Association Against Epilepsy(CJ-B-2021-21);The Interdisciplinary Program of Shanghai Jiao Tong University(YG2021QN108);Emerging Frontier Technology Project of Shanghai Hospital(SHDC12015113);Research Funds of Shanghai Health and Family Planning Commission(20204Y0339);Shanghai Hospital Development Center Foundation(SHDC12022626,SHDC2022CRS052);Shanghai“Rising Stars of Medical Talent”Youth Development Program-Youth Medical Talents-Clinical Pharmacist Program(SHWRS(2020)_087);Innovative Research Team of High-level Local Universities in Shanghai(SHSMU-ZDCX20212800).

摘　　要：Background 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.Methods 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.Results 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.Conclusions 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.

关 键 词：EPILEPSY Glucose transporter type 1 Ketogenic diet SLC2A1 

分 类 号：R742.1[医药卫生—神经病学与精神病学]