47例不明原因婴儿期癫癎性脑病的基因突变分析

Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases

目的探讨不明原因婴儿期癫癎性脑病(EE)的基因突变特点。方法以47例不明原因婴儿期EE患儿为研究对象,利用二代测序技术对所有患儿及其父母进行基因突变分析。结果 47例患儿中23例检出基因突变,其中13例为新发突变、10例为父亲或母亲存在杂合突变。23例基因突变阳性患儿中,17例检出EE相关基因突变(14例为离子通道类基因突变),2例检出先天性遗传代谢病相关基因突变,2例检出脑结构异常相关基因突变,2例检出精神智力发育迟滞相关基因突变。结论婴儿期EE可能存在基因突变,以离子通道类基因突变为主。

Objective To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy（EE）. Methods A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. Results Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother. Among the 23 infants with gene mutations, 17 were found to have the gene mutations related to EE（among whom 14 had ion channel gene mutations）, 2 had the gene mutations related to congenital inherited metabolic diseases, 2 had the gene mutations related to brain structural abnormality, and 2 had the gene mutations related to mental retardation. Conclusions Unexplained infantile EE may have gene mutations, mainly ion channel gene mutations.