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

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

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

29 Scopus citations

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.

Original languageEnglish
Pages (from-to)893-896
Number of pages4
JournalNeurology
Volume63
Issue number5
DOIs
StatePublished - 14 09 2004
Externally publishedYes

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