摘要目的:探讨家族性皮质肌阵挛性癫痫(FCMTE)的临床特征。方法:回顾性收集自2010年5月至2016年11月就诊于天津市人民医院神经内科的7个FCMTE家系中10例患者的临床资料，并进行家族成员的病史调查。结果:7个家系113例家族成员中受累者61例，其中男性30例，女性31例，均符合常染色体显性遗传特征。就诊的10例FCMTE患者中女性5例、男性5例，发病年龄为13~50岁；均以震颤为首发症状，均伴有癫痫发作，诱发因素以劳累、情绪激动或睡眠不足为主，均呈全面性强直-阵挛发作，其中合并局灶性发作伴知觉障碍2例。10例患者中偏头痛4例、认知功能下降3例、肢体强直1例、发作性肢体无力1例、天黑时视物不清1例、头晕1例。行脑电图检查的8例患者均可见痫性放电；行肌电图诱发电位检查的3例患者在刺激外周神经时均可见巨大体感诱发电位(SEPs)和长潜伏期的C反射；行基因检测的3例患者显示 SAMD12基因内含子中五核苷酸(TTTTA/TTTCA)重复扩增。8例行抗癫痫药物治疗，病情均得到有效控制。 结论:FCMTE是以肌阵挛性震颤和癫痫发作为特征的常染色体显性遗传疾病，多于成人期起病，震颤出现常早于癫痫，癫痫发作与情绪激动、睡眠剥夺有关，神经电生理显示震颤来源于大脑皮质。

abstractsObjective:To explore the clinical manifestations of familial cortical myoclonic tremor with epilepsy (FCMTE).Methods:A retrospective analysis was performed. The clinical data of 7 pedigrees with FCMTE (10 patients), admitted to our hospital from May 2010 to November 2016, were collected. Medical history of family members were investigated.Results:A total of 113 family members from 7 pedigrees, including 61 affected individuals (30 males and 31 females) were recorded; all were consistent with autosomal dominant inheritance. In these 10 patients, the age of onset ranged from 13 to 50; there were 5 females and 5 males; tremor was found as first symptom, accompanied by epileptic seizures; the main trigger factors included tiredness, emotional excitement or lack of sleep; all patients presented with generalized tonic-clonic seizure, including 2 with partial seizures accompanied by perceptual disturbance; migraine was noted in 4 patients; cognitive decline was noted in 3 patients, stiffness in 1 patient, paroxysmal weakness in 1 patient, and blurred vision at dark in 1 patient, and dizziness in 1 patient. EEG showed epileptiform discharges in 8 patients. Electromyography was completed in 3 patients, giant somatosensory evoked potentials and long-latency C-reflex were observed when peripheral nerves were stimulated. Intronic pentanucleotide TTTTA and TTTCA repeat insertion in the SAMD12 gene was identified in 3 patients by genetic testing. Antiepileptic drugs were given to 8 patients and their condition was effectively controlled. Conclusions:FCMTE is autosomal dominant disease characterized by myoclonic tremor and epilepsy, usually occurs in adults, and tremor often occurs earlier than epilepsy. Epilepsy is related to emotional excitement and sleep deprivation. Neuroelectrophysiology shows that tremor comes from cerebral cortex.