A novel GLRA1 mutation in a recessive hyperekplexia pedigree

descriptionPublicationkeyboard_double_arrow_right Article 29 May 2007 United Kingdom, Netherlands English Publisher:WileyJournal:Movement Disorders, volume 22, pages 1,643-1,645 (issn: 0885-3185, eissn: 1531-8257,

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Authors: Forsyth RJ; Gika AD; Ginjaar I; Tijssen MAJ;

doi: 10.1002/mds.21574

pmid: 17534957

handle: 11370/af73b30d-e96c-4a17-aa86-7f26ae6da4a8

A novel GLRA1 mutation in a recessive hyperekplexia pedigree

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Abstract

AbstractWe report the identification of a novel Y228C mutation within the M1 trans‐membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. © 2007 Movement Disorder Society

Countries

United Kingdom, Netherlands

Related Organizations

Amsterdam UMC
Netherlands
Newcastle University
United Kingdom
University of Groningen
Netherlands
St George's Hospital
United Kingdom
Royal Victoria Infirmary
United Kingdom

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Keywords

Reflex, Startle, Movement Disorders, DNA Mutational Analysis, GLYCINE RECEPTOR, GENE, GLRA1, STARTLE DISEASE, Pedigree, Receptors, Glycine, hyperekplexia, Child, Preschool, Mutation, Humans, Tyrosine, Female, Cysteine, glycine receptor, Child

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