Abstract: Clinical data of a family with STX1B gene mutation were collected from the Department of Neurology， Chengdu Women and Children's Central Hospital in January 2020. "STX1B" or "syntaxin 1B"both in Chinese and English were used as keywords to search in PUBMED， VIP， CNKI， and Wanfang databases (up to May 31， 2021). The results showed that the child was a 2-year-old boy who started with frequent seizures， which could be induced by fever. His mother and his brother had history of febrile seizures when they were young. The treatment with sodium valproate and oxcarbazepine was not effective at the beginning， and then oxcarbazepine was tapered off and topiramate was added and no seizures recurred. Whole exome sequencing of the fanily revealed a heterozygous missense mutation， c.697G > A (p.Glu233Lys)， in the STX1B gene， which was inherited from his mother， while his brother had no mutation at this site，and this variant had not been reported in the literature before. One Chinese article and 12 English articles were retrieved. There were various seizure types reported in the literature， including generalized tonic-clonic seizures， focal seizures， atonic seizures， and myoclonic atonic seizures. A total of 27 mutations and 3 cases of whole gene deletion were reported in the literature， including 13 missense mutations， 8 frameshift mutations， 5 nonsense mutations， and 1 small fragment insertion. It is concluded that STX1B genes are mainly missense mutations and frameshift mutations， and the clinical phenotype is heterogeneous. We describe a mutation that has not been reported before and it may respond well to topiramate.

Key words:  , STX1B, epilepsy, gene

摘要： 收集2020-01-02在成都市妇女儿童中心医院神经内科就诊的1例STX1B基因突变患儿及其家系的临床资料，以“STX1B”或“syntaxin 1B”为关键词检索Pubmed，以“STX1B”或“syntaxin 1B”或“突触融合蛋白1B”为关键词检索维普、中国知网和万方数据库并进行文献总结（检索截至2021-05-31），结果发现，该例患儿为2岁男性患儿，以频繁惊厥发作起病，发热可诱发发作，患儿母亲及哥哥幼时均有热性惊厥病史，病初先后加用丙戊酸钠、奥卡西平控制效果不佳，后期逐渐减停奥卡西平并加用托吡酯后未再发作。完善家系全外显子测序提示患儿STX1B基因c.697G>A（p.Glu233Lys）杂合错义变异，突变来源于母亲，患儿哥哥此位点无突变，该位点现有数据库未见报道。检索到中文文献1篇，英文文献12篇。文献报道可有多种癫痫发作类型，包括全面强直阵挛发作、局灶发作、失张力发作、肌阵挛-失张力发作等。现有文献共报道27个突变位点及3例整基因缺失，其中错义突变13个，移码突变8个，无义突变5个，小片段插入1个。由此得出，STX1B基因突变以错义突变、移码突变为主，临床表型存在异质性，该文发现了目前尚未报道的位点，其基因突变相关癫痫可能对托吡酯效果较好。

关键词: STX1B, 癫痫, 基因