C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report

Ítems similars

• A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
  per: Milani, N., et al.
  Publicat: (1996)
• A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
  per: Brune, W., et al.
  Publicat: (1996)
• Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia
  per: Zhan, Feixia, et al.
  Publicat: (2020)
• Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C
  per: Kwok, J., et al.
  Publicat: (2001)
• Individual knock out of glycine receptor alpha subunits identifies a specific requirement of glra1 for motor function in zebrafish
  per: Samarut, Eric, et al.
  Publicat: (2019)