儿童热性惊厥/热性惊厥附加症临床特点及其热点基因  

Clinical characteristics of children with febrile seizures/febrile seizures plus and their hot genes

作　　者：原子凯 杜丽君[2] 付晓莹 牛菲 闫婷 李晓媛 贾利芳[2] YUAN Zikai;DU Lijun;FU Xiaoying;NIU Fei;YAN Ting;LI Xiaoyuan;JIA Lifang(Department of Pediatric Medicine,Shanxi Medical University,Taiyuan 030001,China;Department of Neurology,Shanxi Children’s Hospital)

机构地区：[1]山西医科大学儿科医学系,太原030001 [2]山西省儿童医院神经内科

出　　处：《山西医科大学学报》2023年第1期129-134,共6页Journal of Shanxi Medical University

基　　金：山西省儿童医院院内课题(201724)。

摘　　要：目的通过对热性惊厥(FS)/热性惊厥附加症(FS^(+))患儿临床特点及其热点基因筛查,探讨其基因谱并为预后评估及精准治疗奠定基础。方法选取109例首发年龄小、频繁FS/FS^(+)患儿进行热敏感相关癫痫基因检测,观察其预后与基因的相关性。结果109例中筛查出20例涉及10种致病性基因突变,其中SCN1A突变8例,PCDH19突变3例,GABRB3突变2例,GABRG2、ASAH1、ADGRV1、CDKL5、GLB1、ST3GAL5、MEF2C基因突变各1例。9例转变为热敏感癫痫,其中Dravet综合征(Dravet syndrome,DS)3例,FS^(+)伴失神及FS^(+)伴肌阵挛各1例,PCDH19基因相关癫痫3例,Rolandic癫痫(运动性癫痫)1例。结论FS/FS^(+)与多个基因突变相关,SCN1A是其主要热点基因,其次是PCDH19和GABRB3基因。Objective To explore the gene spectrum for prognosis evaluation and precise treatment by screening clinical features and hot genes of children with febrile seizures(FS)/febrile seizures plus(FS^(+)).Methods One hundred and nine children with early onset and frequent FS/FS^(+)were selected for gene detection of heat sensitive epilepsy,and the correlation between prognosis and related genes was analyzed.Results Twenty of 109 cases involved in ten pathogenic gene mutations,including eight cases of SCN1A,three cases of PCDH19,two cases of GABRB3,and one each for GABRG2,ASAH1,ADGRV1,CDKL5,GLB1,ST3GAL5,and MEF2C gene mutations.Nine cases transformed into heat sensitive epilepsy,including three cases of Dravet syndrome(DS),one case of FS^(+)with absence and one case of FS^(+)with myoclonus.There were three cases of PCDH19 gene-related epilepsy and one case of rolandic epilepsy.Conclusion FS/FS^(+)is associated with multiple gene mutations.SCN1A is the main hotspot gene,followed by PCDH19 and GABRB3 genes.

关 键 词：热性惊厥 热性惊厥附加症 基因突变 SCN1A PCDH19 

分 类 号：R725[医药卫生—儿科]