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Brief Report
Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia
Article first published online: 3 JAN 2008
DOI: 10.1002/mds.21909
Copyright © 2007 Movement Disorder Society
Additional Information
How to Cite
Kang, H.-C., Jeong You, S., Jae Chey, M., Sam Baik, J., Kim, J.-W. and Ki, C.-S. (2008), Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia. Mov. Disord., 23: 610–613. doi: 10.1002/mds.21909
Publication History
- Issue published online: 26 MAR 2008
- Article first published online: 3 JAN 2008
- Manuscript Accepted: 20 NOV 2007
- Manuscript Received: 20 JUL 2007
Funded by
- Samsung Biomedical Research Institute. Grant Number: SBRI C-A6-403-2
Keywords:
- a de novo mutation;
- glycine receptor α-1 subunit;
- hyperekplexia
Abstract
Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α-1 subunit of the inhibitory glycine receptor (GLRA1) were reported as causes of STHE. Recently, we encountered a Korean male infant with generalized stiffness that was observed from the first 3 days of life. The abnormal startle response was evident from the fourth week of life, and he showed marked improvement in the startle response and muscle hypertonia after being administered phenobarbital and clonazepam. Direct sequencing analysis of the infant and his parents revealed a de novo variation (c.910A>C) in the GLRA1 gene, resulting in a novel Lys304Gln missense mutation. © 2007 Movement Disorder Society