Hereditary hyperekplexia is a rare neurologic disorder characterized by an exaggerated startle response with profound muscle stiffness.^1,2 Given the nature of the spells, this condition is often misdiagnosed as epilepsy. Mutations in glycine receptors and transporters are the primary cause of this syndrome.¹ We present an example of stimulus-induced hyperekplexia captured on video EEG in a 7-week-old girl with compound heterozygous variants in the presynaptic glycine transporter gene SLC6A5.

中文翻译：

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教学视频 NeuroImage：模仿婴儿强直性癫痫发作的遗传性 Hyperekplexia

遗传性多惊症是一种罕见的神经系统疾病，其特征是过度的惊吓反应和严重的肌肉僵硬。^1,2鉴于法术的性质，这种情况经常被误诊为癫痫。甘氨酸受体和转运蛋白的突变是该综合征的主要原因。¹我们展示了一个 7 周大的女孩在视频 EEG 上捕获的刺激诱导的过度惊厥的例子，该女孩在突触前甘氨酸转运蛋白基因SLC6A5中具有复合杂合变体。