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结节性硬化症相关癫痫外科治疗中国专家共识
Chinese expert consensus on surgical treatment of tuberous sclerosis complexrelated epilepsy
结节性硬化症（tuberous sclerosis complex，TSC）是一种常染色体显性遗传性多器官受累疾病[1-2]，发病率1/6 000~10 000，致病基因是TSC-1和TSC-2基因[2-3]。TSC基因突变引起TSC-1/TSC-2复合体结构与功能异常，对哺乳动物雷帕霉素靶蛋白（mammalian target of rapamycin，mTOR）去抑制，从而导致蛋白合成、细胞生长和血管生成增加，葡萄糖摄取与代谢异常，同时出现细胞定位和移行障碍[1，3]。脑部主要病理改变包括皮质结节、白质放射状移行线、室管膜下钙化灶和室管膜下巨细胞星形细胞瘤（subependymal giant-cell astrocytomas，SEGA），神经系统症状主要有癫痫、发育迟滞、精神异常和局灶性神经功能缺失，以TSC相关性癫痫（TSC-related epilepsy，TRE）最为常见，发病率占70%~90%，其中70%为药物难治性癫痫[2，4]。外科手术是药物难治性癫痫的重要治疗手段，但我国在TRE外科治疗方面尚缺乏操作性规范，为此特制定本专家共识。
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癫痫病临床医学研究北京市重点实验室（首都医科大学三博脑科医院）开放课题（2017DXBL01）；国家自然科学基金（81771388）；北京自然科学基金-海淀原始创新联合基金（L182055）。
