Research progress of ketogenic diet therapy for epilepsy associated with tuberous sclerosis complex
10.3760/cma.j.cn101070-20200218-00190
- VernacularTitle:生酮饮食治疗结节性硬化症相关癫痫的研究进展
- Author:
Yu FANG
1
;
Jianxiang LIAO
Author Information
1. 中国医科大学深圳市儿童医院神经内科，广东 深圳 518038
- Keywords:
Tuberous sclerosis complex;
Epilepsy;
Ketogenic diet;
Mechanism;
Efficacy
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(14):1111-1114
- CountryChina
- Language:Chinese
-
Abstract:
Tuberous sclerosis complex (TSC) is a hereditary and multisystemic disease, caused by mutations in the TSC1 or TSC2 gene, with an incidence of about 1/14 000 to 1/6 000.The neurological manifestations of TSC often include epilepsy, developmental delay, mental disorders and loss of neurological function.Among them, epilepsy is the most common manifestation, with an incidence of 80%-90%, 55%-62% of which is drug-resistant epilepsy.Epilepsy in TSC severely affects the clinical prognosis and life quality of patients.At present, epilepsy in TSC can be treated with the inhibitors of mammalian target of rapamycin(mTOR), antiepileptic drugs, ketogenic diet(KD), neuromodulation, palliative or resection operation.Although the exact mechanism of KD in the treatment of epilepsy in TSC is not clearly elucidated yet, it has been demonstrated in some studies that it is related to the inhibition of mTOR signaling pathway and other multiple mechanisms.Meanwhile, the safety and efficacy of KD therapy have been proven in many clinical studies.Therefore, KD is recommended for the treatment of epilepsy in TSC, especially when epilepsy is resis-tant to antiepileptic drugs, is not indicated for surgery or the surgery is ineffective.The research progress of the mechanism and clinical efficacy of KD therapy for epilepsy in TSC would be reviewed in this paper.
