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. 2004 Sep 14;63(5):893-6.
doi: 10.1212/01.wnl.0000138566.65519.67.

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

C H Tsai  1 , F C Chang, Y C Su, F J Tsai, M K Lu, C C Lee, C C Kuo, Y W Yang, C S Lu
Affiliations

Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family

C H Tsai et al. Neurology. .

Abstract

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.

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