DEPDC5基因突变相关局灶性皮质发育不良并发癫痫手术治疗1例并文献复习

摘要

Objective To investigate the surgical treatment and prognosis of 1 cases of DEPDC5 gene mutation asso-ciated with focal cortical dysplasia (FCD) complicated with epilepsy.Methods one case of with DEPDC5 gene mutation as-sociated with FCD complicated with epilepsy were treated with surgery after detailed preoperative evaluation , and reviewed lit-eratures.Results Mutations in EPDC5 FCD epilepsy patients underwent stereotactic electroencephalogram (SEEG) and de-termined the lesions , surgical resection satisfied controlled seizure , no postoperative complications occurred , pathological re-sult revealed FCD type .Conclusion DEPDC5 gene mutation leads to FCD induced intractable focal epilepsy , surgical treat-ment should be considered .%目的：观察1例DEPDC5基因突变相关局灶性皮质发育不良（ FCD）并发癫痫患者的手术治疗和预后情况。方法 DEPDC5基因突变相关FCD并发癫痫患者1例，经详细的术前评估后进行手术治疗，并结合文献进行分析。结果 DEPDC5基因突变相关FCD并发癫痫患者，行立体定向脑电图（ SEEG ）明确病灶，手术切除后癫痫控制满意，术后无明显并发症，病理回报为FCDⅡa型。结论 DEPDC5基因突变导致FCD引起难治性局灶性癫痫患者，应考虑手术治疗。