Abstract：
Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mutation can cause developmental and epileptic encephalopathy 4, mainly presenting as a developmental and epileptic encephalopathy. We performed the exome-targeted next-generation sequencing in our patient and identified two heterozygous variants: c.963 + 2T>C of STXBP1 and c.520_527delinsTGCTAC (p.R174Cfs*16) of CHRNB2. Molecular analysis was performed of the variant c.963 + 2T>C. Aberrantly spliced products were observed, proving the pathogenicity of this variant. Refractory seizures and developmental delay could be explained. Although the variant c.520_527delinsTGCTAC could cause the truncation of the proteins, it was ultimately determined to be nonpathogenic. The startle-like responses that occurred occasionally during the night were ultimately determined to be an uncommon phenotype caused by the STXBP1 variant.
摘要：
常染色体显性遗传睡眠相关性运动过度癫痫是由CHRNB2、CHRNA4和CHRNA2基因的致病变异所引起的一种罕见疾病，以夜间额叶癫痫为主要症状。突触素结合蛋白1(STXBP1)基因突变可引起发育性和癫痫性脑病4,主要表现为发育性和癫痫性脑病。我们在患者中进行了外显子组靶向的下一代测序，并鉴定了两个杂合变体：c.9632T>C的STXBP1和c.520_527delinsTGCTAC（p。R174Cfs*16）的CHRNB2。对变体c.963+2T>C进行分子分析。观察到异常拼接的产品，证明这种变异的致病性.难治性癫痫发作和发育迟缓可以解释。虽然变体c.520_527delinsTGCTAC可能导致蛋白质的截短，它最终被确定为非致病性。最终确定夜间偶尔发生的惊吓样反应是由STXBP1变体引起的不常见表型。
