常染色体显性遗传性癫痫一家系
Chinese Journal of Medical Genetics(2006)
Abstract
先证者(Ⅲ6) 女,26岁,13年前始反复发作性四肢抽搐,口吐白沫,两眼上翻,发作不分场合,约5分钟左右,发作后头昏、恶心、全身疲乏,间隙期如正常人,每月发作,有时日发多次.曾查头颅CT正常,脑电图显示阵发性棘波及棘慢波发放.用丙戊酸钠治疗1年症状控制,后维持治疗.
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