Wei Chun-Miao, Xia Gui-Zhi, Ren Rong-Na
Department of Pediatrics, Fuzhou General Hospital, Clinical Medical College of Bengbu Medical University, Fuzhou 350025, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Feb;20(2):125-129. doi: 10.7499/j.issn.1008-8830.2018.02.009.
To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE).
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.
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.
Unexplained infantile EE may have gene mutations, mainly ion channel gene mutations.
探讨不明原因婴儿癫痫性脑病（EE）的基因突变特征。
共纳入47例不明原因婴儿EE患儿，采用二代测序技术分析这些患儿及其父母的基因突变情况。
47例患儿中，23例存在基因突变，其中13例为新发突变，10例为从父亲或母亲遗传的杂合突变。在23例有基因突变的患儿中，17例发现与EE相关的基因突变（其中14例为离子通道基因突变），2例有与先天性遗传代谢病相关的基因突变，2例有与脑结构异常相关的基因突变，2例有与智力发育迟缓相关的基因突变。
不明原因婴儿EE可能存在基因突变，主要为离子通道基因突变。
