Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family
Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family
复制标题
台湾神经过敏症家族甘氨酸受体基因的两个新突变
作者：
C. Tsai;F. Chang;Y. Su;F. Tsai;M. Lu;C. C. Lee;C. Kuo;Y. W. Yang;C. S. Lu
作者报告了一个患有常染色体隐性遗传性兴奋过度的台湾家庭。在该家族中鉴定出两个新突变，W96C（来自父本等位基因）和 R344X（来自母本等位基因），它们位于 GLRA1 基因的外显子 4 和外显子 7 中。对其中一名先证者进行了一系列电生理学研究，结果表明“惊吓中枢”位于皮质下。
The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the “startle center” is located subcortically.