生酮饮食在基因突变所致难治性癫痫中应用及疗效的研究进展

Advance in application and efficacy of ketogenic diet therapy in drug-resistant epilepsy caused by gene mutation

遗传因素是难治性癫痫的重要病因。多数情况下,基因突变导致的癫痫无法被现有的抗癫痫药物所控制。生酮饮食通过多靶点作用机制控制癫痫发作,在基因突变所致难治性癫痫中应用广泛。该文就生酮饮食在能量代谢、离子通道、哺乳动物雷帕霉素靶蛋白(mTOR)信号通路以及部分其他罕见病四个方面共23种基因突变所致难治性癫痫中应用及疗效的研究进展作一综述。

Genetic factors are important causes of drug-resistant epilepsy.In most cases,epilepsy caused by gene mutation cannot be controlled by existing antiepileptic drugs.Ketogenic diet controls seizures through multi-target mechanism,which is widely used in the treatment of drug-resistant epilepsy caused by gene mutation.In this paper,the advance in application and efficacy of ketogenic diet therapy in 23 kinds of gene mutation related drug-resistant epilepsy is reviewed,which involves energy metabolism,ion channel,mTOR signaling pathway and some other rare diseases.