家族性皮质肌阵挛震颤伴癫是一种常染色体显性遗传、成年起病、良性病程的罕见癫综合征。主要临床表现为肌阵挛样震颤、伴或不伴癫发作。依据临床表现及神经电生理检查显示肌阵挛样震颤源于大脑皮质可做诊断。抗癫药物可有效控制患者的肌阵挛样震颤和癫。近期研究已提出数个可能的致病基因位点及机制,文中对其临床表现及发病机制的研究进行综述。 Familial cortical myoclonic tremor with epilepsy is an autosomal dominant, adult onset, benign disease course rare epilepsy syndrome. The main clinical manifestations of myoclonus tremor, with or without epileptic seizures. According to clinical manifestations and electrophysiological examination revealed myoclonus tremor from the cerebral cortex can do diagnosis. Antiepileptic drugs can effectively control patients with myoclonus-like tremor and epilepsy. Recent studies have proposed a number of possible pathogenic gene sites and mechanisms, the article reviewed its clinical manifestations and pathogenesis.