mTOR通路相关的难治性癫痫3例报告及文献复习

Three cases report and literature review of mTOR pathway related refractory epilepsy

目的探讨mTOR通路相关的难治性癫痫的基因突变特点,适合的外科手术治疗方案及效果。方法回顾性分析3例基因突变(分别为DEPDC5、RELN、TSC突变)相关的难治性癫痫患者的临床资料,并结合相关文献复习分析手术治疗的方式及效果。结果本组3例患者均行外科手术治疗,术后癫痫发作均得到有效控制。DEPDC5、RELN、TSC基因突变均与m TOR通路相关,可以通过影响神经元移行,导致皮层发育的异常。结论mTOR通路基因突变相关的难治性癫痫,外科手术治疗的成功率高。在难治性癫痫患者进行外科手术治疗前应高度重视遗传性病因的筛查。

Objective To explore the characteristic of gene mutation and surgical treatment of refractory epilepsy patients related to m TOR pathway.Methods The clinical data of 3 patients with refractory genetic epilepsy with DEPDC5、RELN、TSC mutations were analyzed retrospectively.The method and effect of the surgical operation were analyzed combined with the literature reviewe.Results The three patients were seizure free after surgery.It was found that DEPDC5,RELN and TSC mutations were related to m TOR pathway and may cause cortical dysplasia through disturbing neuronal migration.Conclusion The m TOR pathway related refractory patients indicates surgical treatment.Studying genetic variations in patients with refractory epilepsy could help guide the selection of surgical candidates.