中枢神经系统的线粒体功能障碍可以导致癫癎发作,肌阵挛性癫癎与线粒体tRNALys和tRNASer基因突变有关,其几种突变类型中均可出现全面性癫癎发作。部分性癫癎发作常出现在线粒体脑病中,这一类疾病与线粒体tRNALeu基因突变有关。在动物模型及人类癫癎中均证实,线粒体异常与导致神经元死亡的过程密切相关,线粒体功能障碍在癫癎发病机制和难治性癫癎的进展过程中起着重要作用。 Mitochondrial dysfunction in the central nervous system can lead to epileptic seizures. Myoclonic epilepsy is associated with mutations in the mitochondrial tRNALys and tRNASer genes, and generalized epileptic seizures can occur in several types of mutations. Partial epileptic seizures often appear in mitochondrial encephalopathy, this type of disease and mitochondrial tRNALeu gene mutations. In both animal models and in human epilepsy, mitochondrial abnormalities have been shown to be closely linked to the process leading to neuronal death, and mitochondrial dysfunction plays an important role in the pathogenesis of epilepsy and the progression of refractory epilepsy.