儿科药学杂志2025，Vol.31Issue(3)：30-34,5.DOI:10.13407/j.cnki.jpp.1672-108X.2025.03.008
1例STXBP1脑病报道并文献复习
A Case of STXBP1 Encephalopathy and Literature Review
摘要
Abstract
Objective:To explore and report the clinical characteristics,gene mutation,diagnosis and treatment methods of a case of STXBP1 encephalopathy.Methods:Clinical data of a child with STXBP1 encephalopathy were collected and analyzed,and literature review on STXBP1 encephalopathy was conducted.Results:The boy presented for the first time at the age of 17 d with the clinical manifestation of recurrent epileptic seizures with developmental delay.Whole exome sequencing showed that the child was a heterozygous mutation of STXBP1(c.863G＞A),resulting in amino acid change p.w288x(nonsense mutation).The family verification analysis showed that there was no variation at this locus in the child of the patients,and the mutation was de novo.Conclusion:Genetic testing plays a significant role in the early diagnosis,genetic counseling,prognosis assessment and development of follow-up treatment regimen of STXBP1 encephalopathy,and the mutation expands the genetic variation spectrum of STXBP1 encephalopathy.关键词
发育性癫痫性脑病/STXBP1/基因突变Key words
developmental and epileptic encephalopathy/STXBP1/gene mutation分类
临床医学引用本文复制引用
索桂海,戴雨菲,郑玉芹,汤继宏,吴尤佳..1例STXBP1脑病报道并文献复习[J].儿科药学杂志,2025,31(3):30-34,5.基金项目
南通市科技局项目,编号JC22022028、JC12022038 （）
江苏省卫生健康委医学科研重点项目,编号ZD2021004 （）
江苏省妇幼保健科研项目,编号F202330 （）
江苏省妇幼保健协会科研项目,编号FYX202125. （）
