Hyperekplexia or startle disease is a dysfunction of inhibitory glycinergic neurotransmission characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. Although rare, this disorder can have serious consequences, including sudden infant death. One of the most frequent causes of hyperekplexia are mutations in the SLC6A5 gene, encoding the neuronal glycine transporter 2 (GlyT2), a key component of inhibitory glycinergic presynapses involved in synaptic glycine recycling though sodium and chloride-dependent co-transport. Most GlyT2 mutations detected so far are recessive, but two dominant missense mutations have been described. The detailed analysis of these mutations has revealed structural cues on the quaternary structure of GlyT2, and opens the possibility that novel selective pharmacochaperones have potential therapeutic effects in hyperekplexia.

中文翻译：

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神经元甘氨酸转运蛋白2。

上肢过度抽搐或惊吓疾病是抑制性甘氨酸能神经传递的功能障碍，其特征在于对琐碎的触觉或听觉刺激作出反应而使惊吓夸大。尽管很罕见，但这种疾病可能会造成严重后果，包括婴儿猝死。引起高发性多动症的最常见原因之一是SLC6A5基因的突变，该基因编码神经元甘氨酸转运蛋白2（GlyT2），后者是通过钠和氯化物依赖性共转运而参与突触甘氨酸循环的抑制性甘氨酸能突触的关键成分。到目前为止，大多数检测到的GlyT2突变是隐性的，但是已经描述了两个主要的错义突变。对这些突变的详细分析揭示了GlyT2的四级结构的结构线索，