PRRT2基因突变相关癫痫患儿临床及基因突变特点分析  

Analysis on the clinical characteristics and gene mutation characteristics of PRRT2 gene mutation-related epilepsy in pediatric patients

作　　者：阮毅燕[1] 陈瑜毅[1] 王金秋[1] 陈殷[1] 冯军坛[1] 韦凤萍 宋玲利 梁路斯 RUAN Yiyan;CHEN Yuyi;WANG Jinqiu;CHEN Yin;FENG Juntan;WEI Fengping;SONG Lingli;LIANG Lusi(Department of Pediatric Neurology,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region(Guangxi Clinical Research Center for Pediatric Diseases),Nanning 530000,China)

机构地区：[1]广西壮族自治区妇幼保健院(广西儿科疾病临床医学研究中心)儿童神经内科,南宁530000

出　　处：《中国临床新医学》2024年第8期907-912,共6页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：广西科技计划项目(编号:桂科AB17195011,桂科AD22035121);广西医疗卫生重点学科项目。

摘　　要：目的分析富脯氨酸跨膜蛋白2(PRRT2)基因突变相关癫痫患儿临床及基因突变特点。方法回顾性分析2015年1月至2020年8月广西壮族自治区妇幼保健院收治的17例PRRT2基因突变相关癫痫患儿的临床资料,对其临床及基因突变特点进行总结分析。结果17例患儿中男9例,女8例,中位起病龄为5月龄。癫痫发作类型多样,10例起病初期有丛集性发作。诊断为良性婴儿癫痫(BIE)8例,良性家族性婴儿癫痫(BFIE)4例,婴儿痉挛症(IS)1例,BFIE+发作性运动诱发性运动障碍(PKD)1例。应用抗癫痫发作药物单药治疗后大部分患儿病情控制良好。截至末次随访,16例癫痫发作已缓解,1例仍有发作。4例出现认知发育落后。基因检测结果显示17例患儿中有8例为PRRT2基因整体缺失,9例为PRRT2基因点突变,均为移码突变,其中8例突变位点为c.640_641insC。7例为家族遗传性突变,2例为新生突变。结论PRRT2基因突变相关癫痫绝大多数在生后6个月内起病,病初以丛集性发作为特点。癫痫发作类型多样,表现轻重不一。抗癫痫发作药物单药治疗多能有效控制癫痫发作,少部分患儿有不同程度的认知发育落后。c.640_641insC可能是PRRT2基因的热点突变位点。Objective To analyze the clinical characteristics and gene mutation characteristics of proline-rich transmembrane protein 2(PRRT2)gene mutation-related epilepsy in children.Methods The clinical data of 17 pedi-atric patients with PRRT2 gene mutation-related epilepsy who were admitted to Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2015 to August 2020 were retrospectively analyzed,and their clinical characteristics and gene mutation characteristics were summarized and analyzed.Results Among the 17 pediatric patients,9 cases were male and 8 cases were female,and the median onset age of the patients was 5 months.There were various types of epileptic seizures,and 10 cases had cluster seizures at the beginning of the disease.The patients were diag-nosed with benign infantile epilepsy(BIE)in 8 cases,benign familial infantile epilepsy(BFIE)in 4 cases,infantile spasms(IS)in 1 case,and BFIE+paroxysmal kinesigenit dyskinesia(PKD)in 1 case.After monotherapy with anti-seizure medications,the condition of the most pediatric patients was well controlled.Up to the last follow-up,16 patients′seizures were relieved,and 1 patient still had seizures.Cognitive development was delayed in 4 patients.The results of genetic testing showed that 8 cases of the 17 cases had global deletion of PRRT2 gene,and 9 cases had point mutation of PRRT2 gene,all of which were frameshift mutations,and the mutation site of 8 cases was c.640_641insC.There were 7 cases of familial inherited mutation and 2 cases of de novo mutation.Conclusion The majority of PRRT2 gene mutation-related epilepsy are in onset within 6 months after birth in pediatric patients,and cluster seizures are the prominent features at the beginning of the disease.There are various types of epileptic seizures with varying degrees of severity.Monotherapy with anti-seizure medications can effectively control epileptic seizures.A small number of the pediatric patients have different degrees of cognitive retardation.The site of c.640_641insC may be

关 键 词：富脯氨酸跨膜蛋白2 癫痫 基因突变 临床特点 

分 类 号：R742.1[医药卫生—神经病学与精神病学]