Abstract

DEPDC5基因相关癫痫是哺乳动物雷帕霉素靶蛋白(mTOR)通路相关病。该病呈常染色体显性遗传,临床表型异质性大,轻者表现为无症状携带者,重者可发生癫痫性猝死,有多种癫痫发作类型,伴或不伴皮质发育畸形,抗癫痫药物治疗反应欠佳。本文对DEPDC5基因相关癫痫的临床特征、发病机制及治疗进展进行综述。.

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