Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 15365143.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Mutation, Missense
- Point Mutation
- Receptors, Glycine
- Reflex, Abnormal
- Reflex, Startle
- Reflex, Stretch