A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Mov Disord. 2007 Aug 15;22(11):1643-5. doi: 10.1002/mds.21574.

Abstract

We 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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Cysteine / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Movement Disorders / genetics*
  • Movement Disorders / physiopathology*
  • Mutation / genetics*
  • Pedigree
  • Receptors, Glycine / genetics*
  • Reflex, Startle / genetics*
  • Tyrosine / genetics

Substances

  • GLRA1 protein, human
  • Receptors, Glycine
  • Tyrosine
  • Cysteine