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目的:报告3例脑室周围结节状异位并癫痫发作的病例进行基因变异分析，明确其可能的致病原因。方法:分析3例表现为脑室周围结节状异位并癫痫发作的患者临床资料，对患者行全外显子测序(whole exome sequencing，WES)检测，对可疑变异位点进行Sanger测序及双亲验证。结果:3例均以癫痫发作就诊的女性患者，头颅MRI见双侧侧脑室结节性灰质异位，全外显子测序示例1及其母亲(例2)n FLNA基因存在c.2720del T(p.Leu907Argfs*39)杂合变异，根据美国医学遗传学与基因组学学会遗传变异标准与指南判定为致病性变异(PVS1+PM2+PP1)；例3的n FLNA基因存在c.1387_1390del GTGC(p.Val463Profs*34)杂合变异，判定为可能致病变异(PVS1+PM2)。n 结论:FLNA基因c.2720del T和c.1387_1390del GTGC变异可能为3例患者的遗传学病因。n “,”Objective:To explore the genetic bases of 3 patients with periventricular nodular heterotopia and epileptic seizure.Methods:The clinical data of three patients presenting with periventricular nodular ectopic with epileptic seizure were analyzed. Whole exome sequencing (WES) was performed on the patients, and Sanger sequencing was used to validate the suspected variants.Results:In three female patients, head MRI showed nodular gray matter ectopic in the bilateral ventricle.WES identified the heterozygous c. 2720del T(pLeu907Argfs*39) variant of n FLNA gene in case 1 and her mother (case 2), and heterozygous c. 1387_1390del GTGC(p.Val463Profs*34 ) of n FLNA gene in case 3. According to the American College of Medical Genetics and Genomics standards and guidelines, the c. 2720delT(p.Leu907Argfs*39) and c. 1387_1390del GTGC(p.Val463Profs*34 ) variants of n FLNA gene were predicted to be pathogenic (PVS1+ PM2+ PP1) and likely pathogenic(PVS1+ PM2), respectively.n Conclusion:The c. 2720delT(p.Leu907Argfs*39) and c. 1387_1390del GTGC(p.Val463Profs*34 ) variants of n FLNA gene may be the genetic cause of the three patients.n