title: Identification of a de novo Lys304Gln mutation in the glycine receptor alpha-1 subunit gene in a Korean infant with 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 alpha-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.
authors.affiliation: Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea.
authors.forename: Hoon-Chul
authors.initials: HC
authors.lastname: Kang
authors.forename: Su
authors.initials: S
authors.lastname: Jeong You
authors.forename: Myung
authors.initials: M
authors.lastname: Jae Chey
authors.forename: Jong
authors.initials: J
authors.lastname: Sam Baik
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D044466:Asian People / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D005091:Exons / Q000235:genetics; D015870:Gene Expression / Q000235:genetics*; D023281:Genomics / Q000379:methods; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D018009:Receptors, Glycine / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; C000657604:GLRA1 protein, human; D018009:Receptors, Glycine