title: A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
authors.forename: Evelien
authors.initials: E
authors.lastname: Zoons
authors.forename: Ieke B
authors.initials: IB
authors.lastname: Ginjaar
authors.forename: Paul A D
authors.initials: PA
authors.lastname: Bouma
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Carpay
authors.forename: Marina A J
authors.initials: MA
authors.lastname: Tijssen
mesh_terms: D016368:Frameshift Mutation; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018009:Receptors, Glycine / Q000235:genetics*
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine