A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia

J Med Genet. 2003 May;40(5):e71. doi: 10.1136/jmg.40.5.e71.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation / genetics*
  • Protein Structure, Tertiary
  • Receptors, Glycine / chemistry*
  • Receptors, Glycine / genetics*
  • Reflex, Startle / physiology*

Substances

  • Receptors, Glycine

Associated data

  • OMIM/149400
  • RefSeq/XM_032738