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

This publication has 12 references indexed in Scilit:

• Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α₁ subunit of the inhibitory glycine receptor
  Human Molecular Genetics, 1994
• An additional family with Startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene
  Human Molecular Genetics, 1994
• Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion
  Nature Genetics, 1994
• A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse
  Nature Genetics, 1994
• Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia
  Nature Genetics, 1993
• The strychnine-binding subunit of the glycine receptor shows homology with nicotinic acetylcholine receptors
  Nature, 1987