青少年肌阵挛癫痫的临床研究进展

Research on the Progress of Juvenile Myoclonic Epilepsy

青少年肌阵挛性癫痫(juvenile myoclonic epilepsy,JME))是一种发生于青少年的全身性癫痫综合征,临床主要表现为肌阵挛发作,可合并失神发作、全面性强直阵挛发作,少数患者有认知和运动障碍。JME发病与许多基因位点变异有关。诊断该病主要依据发病年龄、临床表现及脑电图检查。正确诊断和合理应用抗癫痫药物是治疗JME的关键。丙戊酸类药物是治疗该病的经典用药,左乙拉西坦、妥泰等其他新型抗癫痫药物也可作为选择。既往研究认为JME预后不佳,需终身服药,近年来许多长期随访研究提出JME预后良好,可望治愈。现就该病研究进展进行综述。

Juvenile myoclonic epilepsy(JME) is a kind of systemic epilepsy syndrome that occurs in teenagers. Its clinical manif estations are mainly myoclonic seizure, which can be combined with the absence of mental seizure and general tonicoclonic seizure. The incidence of JME is associated with many genetic locus variants. The diagnosis of the disease is mainly based on the age of onset, clinical manifestations and eegexamination. Correct diagnosis and reasonable application of antiepileptic drugs are the key to the treatment of JME. Valproic acid is a classic drug for the treatment of this disease. Other new anti-epilepsy drugs such as levetiracetam and tootate are also available. Previous studies have suggested that JME has poor prognosis and requires lifelong medication. In recent years, many long-term follow-up studies have suggested that JME has a good prognosis and is expected to be cured. The progress of this disease is reviewed.