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

E Miraglia Del Giudice, G Coppola, G Bellini, P Ledaal, Jens Michael Hertz, A Pascotto

Research output: Contribution to journalJournal articleResearchpeer-review

Original languageEnglish
JournalJournal of Medical Genetics
Issue number5
Pages (from-to)e71
Publication statusPublished - 2003


  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation
  • Protein Structure, Tertiary
  • Receptors, Glycine
  • Startle Reaction

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