Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia

Clin Chim Acta. 2006 Feb;364(1-2):361-2. doi: 10.1016/j.cca.2005.09.018. Epub 2005 Oct 19.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anticonvulsants / therapeutic use
  • Base Sequence
  • Child, Preschool
  • Clonazepam / therapeutic use
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Heterozygote
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation, Missense*
  • Receptors, Glycine / genetics*
  • Sequence Homology, Nucleic Acid
  • Stiff-Person Syndrome / diagnosis
  • Stiff-Person Syndrome / drug therapy
  • Stiff-Person Syndrome / genetics*
  • Treatment Outcome

Substances

  • Anticonvulsants
  • GLRA1 protein, human
  • Receptors, Glycine
  • Clonazepam