A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Eitemau Tebyg

• Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating
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  Cyhoeddwyd: (1999)
• Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia
  gan: Chung, Seo-Kyung, et al.
  Cyhoeddwyd: (2010)
• Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.
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  Cyhoeddwyd: (1996)
• A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia.
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  Cyhoeddwyd: (1996)
• Glycine Receptor Knock-In Mice and Hyperekplexia-Like Phenotypes: Comparisons with the Null Mutant
  gan: Findlay, Geoffrey S., et al.
  Cyhoeddwyd: (2003)