Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia

✍ Scribed by Hoon-Chul Kang; Su Jeong You; Myung Jae Chey; Jong Sam Baik; Jong-Won Kim; Chang-Seok Ki

• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 423 KB
• Volume: 23
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.21909

✦ Synopsis

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