目的　总结GLRA1基因突变致过度惊吓反应症的临床及遗传学特点。方法　回顾性分析2019年7月就诊的 1例过度惊吓反应症患儿的临床资料。结果　患儿男性， 2个月29天，新生儿期起在突然的外界刺激后出现过度惊吓反应， 全身僵硬、四肢肌张力增高；点鼻反射阳性。同期脑电图未见发作期图形。实验室及神经影像学检查均无特殊。全外显子 测序证实患儿GLRA1基因（NM_000171.3），c.920A>G杂合错义突变，其父母均未见突变，为新生突变。该错义突变目前 国际上未见报道，根据美国医学遗传学与基因组学学会（ACMG）指南该变异为疑似致病。患儿经氯硝西泮口服治疗后症 状较前明显改善，但四肢肌张力仍偏高。结论　该患儿为GLRA1基因变异而致过度惊吓反应症，基因分析有助早期诊断 及治疗。

Objective　To investigate the clinical and genetic features of hyperekplexi caused by GLRA1 gene mutation. Methods　The clinical data of hyperekplexi in a child admitted in July 2019 were retrospectively analyzed. Results　There was a boy aged two months and 29 days. Since the neonatal period, the child has developed an excessive startle response such as generalized stiffness and hypertonia to sudden external stimuli. Physical examination exhibited the positive nose-tapping reflex. There were no obvious abnormalities in laboratory tests, electroencephalogram (EEG) and neuroimaging tests. The whole exome sequencing confirmed the heterozygous missense mutation, (NM_000171.3), c.920A>G, in GLRA1 gene. The mutation was not found in either parent, and it was a novo mutation. The missense mutation has not been reported internationally and is suspected to be pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. After oral treatment with clonazepam, the symptoms of the child were significantly improved, but the muscle tension of the limbs was still high. Conclusion　The hyperekplexia was confirmed in a child due to a mutation in the GLRA1 gene. Genetic analysis could help in early diagnosis and treatment.