title: Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family.
abstract: The authors report a Taiwanese family with autosomal recessive hyperekplexia. Two novel mutations, W96C (from the paternal allele) and R344X (from the maternal allele), which are located in exon 4 and exon 7 of the GLRA1 gene, were identified in this family. A series of electrophysiologic investigations were conducted in one of the probands, and the results suggest that the "startle center" is located subcortically.
authors.affiliation: Neuroscience Laboratory, Department of Neurology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: C H
authors.initials: CH
authors.lastname: Tsai
authors.forename: F C
authors.initials: FC
authors.lastname: Chang
authors.forename: Y C
authors.initials: YC
authors.lastname: Su
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: M K
authors.initials: MK
authors.lastname: Lu
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: C C
authors.initials: CC
authors.lastname: Kuo
authors.forename: Y W
authors.initials: YW
authors.lastname: Yang
authors.forename: C S
authors.initials: CS
authors.lastname: Lu
mesh_terms: D000161:Acoustic Stimulation; D000328:Adult; D019943:Amino Acid Substitution; D001921:Brain / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004576:Electromyography; D019054:Evoked Potentials, Motor; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008280:Magnetics; D020125:Mutation, Missense; D010375:Pedigree; D010812:Physical Stimulation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D018009:Receptors, Glycine / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics*; D013216:Reflex, Startle / Q000235:genetics* / Q000502:physiology; D012026:Reflex, Stretch / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013624:Taiwan / Q000453:epidemiology
chemical_list: C000657604:GLRA1 protein, human; D018009:Receptors, Glycine