Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.
作者： CH Tsai , FC Chang , YC Su , FJ Tsai , MK Lu
DOI: 10.1212/01.WNL.0000138566.65519.67
关键词:
摘要: The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X maternal allele), which are located in exon 4 7 of GLRA1 gene, were identified this family. A series electrophysiologic investigations conducted one probands, results suggest that “startle center” is subcortically.
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