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

Ítems similars

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