A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.

Antzeko izenburuak

• Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C
  nork: Kwok, J., et al.
  Argitaratua: (2001)
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
  nork: Elmslie, F V, et al.
  Argitaratua: (1996)
• A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
  nork: Brune, W., et al.
  Argitaratua: (1996)
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
  nork: Chung, Seo-Kyung, et al.
  Argitaratua: (2010)
• C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report
  nork: Zhang, Yan, et al.
  Argitaratua: (2020)