癫痫杂志

癫痫杂志

突触融合蛋白结合蛋白 1 基因与癫痫性脑病的研究进展

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癫痫性脑病(Epileptic encephalopathy,EE)是一类由难治性癫痫极度异常脑电活动导致的脑部疾病。近年来随着分子遗传学的进步,越来越多的研究表明突触融合蛋白结合蛋白 1(Synaptotagmin binding protein 1, STXBP1)基因突变与 EE 有关。文章对 EE 的病因及病理生理学机制进行综述,从而提高临床医生对 EE 的认识,并探讨将 STXBP1 作为靶点治疗 EE 的可能性,为临床治疗 EE 提供依据和指导。

关键词: 癫痫性脑病; 突触融合蛋白结合蛋白 1; 可溶性 N-乙基马来酰亚胺敏感因子附着蛋白受体蛋白

引用本文: 刘梅歌, 李亚静, 赵春维, 肖丹青, 董伟伟, 刘扬, 刘献增. 突触融合蛋白结合蛋白 1 基因与癫痫性脑病的研究进展. 癫痫杂志, 2018, 4(5): 421-425. doi: 10.7507/2096-0247.20180070 复制

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