title: Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia.
authors.forename: Wing-Tat
authors.initials: WT
authors.lastname: Poon
authors.forename: Kam-Ming
authors.initials: KM
authors.lastname: Au
authors.forename: Yan-Wo
authors.initials: YW
authors.lastname: Chan
authors.forename: Kwok-Yin
authors.initials: KY
authors.lastname: Chan
authors.forename: Chun-Bong
authors.initials: CB
authors.lastname: Chow
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001483:Base Sequence; D002675:Child, Preschool; D002998:Clonazepam / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020125:Mutation, Missense; D018009:Receptors, Glycine / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D000927:Anticonvulsants; C000657604:GLRA1 protein, human; D018009:Receptors, Glycine; D002998:Clonazepam