Hyperekplexia caused by dominant-negative suppression of glyra1 function

Neurology. 2007 May 29;68(22):1947-9. doi: 10.1212/01.wnl.0000263193.75291.85.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Codon, Nonsense
  • Humans
  • Infant
  • Male
  • Nervous System Diseases / genetics*
  • Pedigree
  • Receptors, Glycine / genetics*
  • Reflex, Startle*

Substances

  • Codon, Nonsense
  • Receptors, Glycine

Associated data

  • OMIM/149400