良性成人家族性肌阵挛癫痫三家系临床特点分析

对三个良性家族性肌阵挛癫痫(BAFME)家系中的31例存活患者的临床资料进行回顾性分析.31例患者年龄为16-83岁,平均45.9岁.家系一发病年龄为14～46岁,家系二为15～39岁,家系三为31～50岁.男女发病率无明显差异.所有患者均以皮质震颤、肌阵挛伴或不伴癫痫发作为主要临床表现.28例存活者行脑电图检查,21例显示异常,主要表现为多棘波或棘慢、尖慢复合波的出现.25例存活者行体感诱发电位检查,21例可见巨大电位.丙戊酸钠能有效控制患者的肌阵挛或全身强直-阵挛发作.

Clinical characteristics of benign adult familial myoclonic epilepsy in three families

This paper retrospectively analyzed the clinical data of 31 survivors from three families with benign adult familial myoclonic epilepsy (BAFME). The ages of 31 patients ranged from 16 to 83 years (mean 45.9 years). The onset ages ranged from 14 to 46 years in family one, 15 to 39 years in family two, and 31 to 50 years in family three. There was no significant difference in the morbidity between men and women. Cortical tremors and myoclonus with or without seizures were presented as main clinical manifestations in the patients. The electroencephalography was performed in 28 survivors and 21 showed abnormal, manifesting with appearance of polyspike or spike-slow and sharp-slow complex waves. The somatosensory evoked potentials testing demonstrated typical giant potentials in 21 patients out of 25 survivors. Myoclonus or seizures could be controlled effectively with valproate.