1例STXBP1脑病报道并文献复习

被引：0
|
作者：
索桂海 [1 ]
戴雨菲 [1 ]
郑玉芹 [1 ]
汤继宏 [2 ]
吴尤佳 [1 ]
机构：
[1] 南通大学附属医院
[2] 苏州大学附属儿童医院
来源：
儿科药学杂志 | 2025年 / 31卷 / 03期
关键词：
发育性癫痫性脑病; STXBP1; 基因突变;
D O I：
暂无
中图分类号：
R742.1 [癫痫];
学科分类号：
摘要：
目的:探讨并报道1例STXBP1脑病的临床特点、基因突变及诊疗方法。方法:整理并分析1例STXBP1脑病患儿的临床资料，并对STXBP1脑病进行文献复习。结果:患儿，男，17 d龄首次就诊，临床表现为反复癫痫发作伴发育迟滞。全外显子基因测序：STXBP1杂合突变(c.863G>A),导致氨基酸改变p.W288X(无义突变)。经家系验证，患儿父母该位点均无突变，此突变为新发突变。结论:基因检测对于STXBP1脑病的早期诊断、遗传咨询、预后判断和治疗计划具有重要意义，该例突变扩充了STXBP1脑病的基因突变谱。
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页码：30 / 34
页数：5
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