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全面性癫痫伴热性惊厥附加症一家系六例

CHINESE JOURNAL OF MEDICAL GENETICS(2009)

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Abstract
先证者(Ⅲ4)男,18岁.因"反复发作性抽搐16年"于2007年7月来我院门诊就诊.患者16年前于发热时(38℃以上)出现双眼上翻凝视,牙关紧闭,口吐白沫,双上肢屈曲、下肢伸直、强直抽搐,伴呼之不应、口唇紫绀.持续约1min后自行停止,1~2min后清醒,感乏力、发困多睡.
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