Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family
- 14 September 2004
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (5) , 893-896
- https://doi.org/10.1212/01.wnl.0000138566.65519.67
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.Keywords
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