五例ADGRV1基因突变癫痫的临床特点与突变分析

Clinical characteristics and mutation analysis of five cases of epilepsy with ADGRV1 gene mutation

目的旨在分析ADGRV1基因突变癫痫的临床和遗传学特征。方法回顾性分析2018年1月—2018年12月济宁医学院附属医院诊断为癫痫并进行相关基因测序的患者26例,筛选出5例ADGRV1突变的癫痫患者,总结其临床特征及基因突变特征。结果共收集5例ADGRV1突变的癫痫患者,其中男1例、女4例,平均年龄(7±5.83)岁。3例有癫痫家族史,另2例患者父亲有热性惊厥史。2例表现为全面性强直阵挛发作,3例表现为部分性发作继发全面性发作。基因检测结果共发现了ADGRV1基因上7个变异位点,其中1个错义突变位点c.2039A>G已有文献报道。5例患者中2例进行了癫痫手术治疗,术后仍长期联合应用多种抗癫痫药物治疗,另3例患者长期应用抗癫痫药物治疗。目前5例患者中4例发作仍未能得到有效控制,1例随访近1年未再发作。结论 ADGRV1基因突变所致癫痫的临床特征为起病早,主要表现为全面强直阵挛发作或部分性发作继发全面性发作,发作时伴有意识障碍。抗癫痫药物与术后抗癫痫药物联合治疗效果较差。基因检测可以指导遗传咨询和辅助诊断。

Objective To analyze the clinical and genetic characteristics of ADGRV1 gene mutation epilepsy.Methods A retrospective collection of 26 patients with epilepsy diagnosed and related gene sequencing was performed in the Affiliated Hospital of Jining Medical College from January 2018 to December 2018. Five epilepsy patients with ADGRV1 mutations were screened out, and their clinical characteristics and gene mutation characteristics were summarized. Results A total of 5 epilepsy patients with ADGRV1 mutation were collected, including 1 male and 4 females, with an average age of(7±5.83) years. Three patients had a family history of epilepsy, and the father of the other two patients had a history of febrile seizures. 2 cases showed generalized tonic-clonic seizures, and 3 cases showed partial seizures followed by generalized seizures. The results of genetic testing revealed 7 mutation sites in the ADGRV1 gene, of which one missense mutation site c.2039 A>G has been reported in the literature. Two of the 5 patients underwent epilepsy surgery, and they were still treated with multiple anti-epileptic drugs for a long time after the operation, and the other 3 patients were treated with anti-epileptic drugs for a long time. At present, 4 out of 5 patients had seizures still not under effective control, and 1 case did not relapse after being followed up for nearly 1 year. Conclusion The clinical features of epilepsy caused by ADGRV1 gene mutation are early onset, mainly manifested as general tonic-clonic seizures or partial seizures secondary to generalized seizures, accompanied by disturbance of consciousness during seizures. The combined treatment of anti-epileptic drugs and postoperative anti-epileptic drugs is less effective. Genetic testing can guide genetic counseling and assisted diagnosis.