机构地区:[1]海南医学院第二附属医院儿科一区,海南海口570100 [2]海南医学院附属儿童医院儿科,海南海口570100
出 处:《河北医学》2022年第6期950-955,共6页Hebei Medicine
基 金:海南省自然科学基金项目,(编号:813546)。
摘 要:目的:探讨早发性癫痫脑病(early-onset epileptic encephalopathy,EOEE)患儿SCN1A、CDKL5基因突变的特点,并总结其具体临床特征。方法:选取我院2018年4月至2019年4月期间收治的40例早发性癫痫脑病患儿临床资料作为研究对象,分别采集患儿及相关家庭成员外周血,患儿外周血采用靶向二代测序技术分析患儿癫痫基因,家庭成员外周血采用sanger测序排查,并利用多重连接依赖的探针扩增技术(MultipIe ligation-dependen,probe amplification,MLPA)筛查SCN1A、CDKL5基因突变阴性患儿大片基因片段。结果:40例EOEE患儿中,有男性12例,女性28例,疾病发作时间为出生后6d至18个月(10.11±4.29)个月。存在23例患儿出现婴儿痉挛症,10例出现出现非特异性EOEE疾病,4例出现Dravet综合征,3例出现大田原综合征。40例患儿中共发现32例(80.00%)SCNIA、CDKL5基因突变,其中17例(42.50%)患儿SCNIA基因突变,15例(37.50%)患儿CDKL5基因突变,包括17例(42.50%)错义突变,3例(7.50%)插入突变,3例(7.50%)无义突变,3例(7.50%)剪切位点突变,6例(15.00%)微小缺失突变。在32例SCNIA、CDKL5基因突变的患儿中,有27例(84.38%)患儿首次发病出现无热惊厥,6例(18.75%)患儿伴有强直阵挛,3例(9.38%)患儿伴有全身痉挛,随着病情发展有5例(15.63%)患儿出现痉挛。32例SCNIA、CDKL5基因突变患儿中,尚无患儿具备有意义语言和独立行走能力,21例(65.63%)患儿独坐时间明显低于同年龄正常儿童,28例(87.50%)患儿具有孤独症征兆,11例(34.38%)存在手足功能低刻板和身体发育缓慢情况。结论:SCN1A、CDKL5基因突变相关的EOEE疾病在患儿群体中发病较早,且临床表现形式多样,将严重影响患儿的生长发育。因此,需在早期抗癫痫药物和食疗基础上探索更加针对性的治疗方法,以此对症治疗。Objective:To investigate the characteristics of SCN1A,CDKL5 gene mutation in children with early epileptic encephalopathy and summarize its clinical characteristics.Methods:The clinical data of 40 children with early-onset epileptic encephalopathy treated in our hospital from April 2018 to April 2019 were selected,the peripheral blood of children and related family members were collected respectively.The peripheral blood of children were analyzed by targeted second-generation sequencing technique.The peripheral blood of family members was examined by sanger sequencing and the multiple-connection-dependent probe amplification technique(Multi-Ieligation-dependen,probe amplification,MLPA)was used to screen large gene fragments in children negative for mutations in the SCN1A and CDKL5 genes.Results:Among the 40 children with EOEE,there were 12 males and 28 females.The onset time of the disease was 6 days to 18 months after birth(10.11±4.29 months).There were 23 cases of infant spasm,10 cases of nonspecific EOEE disease,4 cases of Dravet syndrome and 3 cases of Daejeon syndrome.A total of 32(80.00%)SCNIA,CDKL5 gene mutations were found in 40 children,including 17(42.50%)SCNIA gene mutations,15(37.50%)CDKL5 gene mutations,or,17(42.50%)missense mutations,3(7.50%)insertion mutations,3(7.50%)nonsense mutations,3(7.50%)shear site mutations and 6(15.00%)microdeletion mutations.Of the 32 children with SCNIA,CDKL5 gene mutation,27(84.38%)had no febrile convulsion for the first time,6(18.75%)had tonic clonus,3(9.38%)had systemic spasm,and 5(15.63%)had spasm with the development of the disease.Of the 32 children with SCNIA,CDKL5 gene mutation,no significant language and independent walking ability were found.21 cases(65.63%)had significantly lower sitting time than those of normal children of the same age,28 cases(87.50%)had symptoms of autism,and 11 cases(34.38%)had low hand and foot function and slow body development.Conclusion:SCN1A,CDKL5 gene mutation related to EOEE disease in children with early onset,and the clinical ma
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