摘要
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（FCMTE） is an autosomal dominant idiopathic, adult onset, and non-progressive epileptic syndrome, characterized by cortical myoclonic tremor and infrequent generalized seizures. Electrophysiological studies suggested that myoclonic tremor originate in cerebral cortex. The diagnosis was based on clinical and electrophysiological features, and the tremor and epileptic seizures responded well to antiepileptic drugs such as clonazepam or valproate. The causative gene has not been identified and the pathogenesis remains only speculative, thus further research should concentrate on the pathophysiology by means of genetic and clinical studies.
出处
《中国临床神经科学》
2016年第2期220-224,共5页
Chinese Journal of Clinical Neurosciences
基金
上海市科学技术委员会重大项目(编号:13DJ1400300)
关键词
家族性皮质肌阵挛性震颤伴癫
癫综合征
皮质性震颤
familial cortical myoclonic tremor with epilepsy
epileptic syndrome
cortical tremor
