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

@article{Brune1996AGN,
  title={A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.},
  author={Wolfram Brune and Richard G. Weber and Brigitta Saul and Magnus von Knebel Doeberitz and C Grond-Ginsbach and K A Kellerman and H. M. Meinck and Cord Michael Becker},
  journal={American journal of human genetics},
  year={1996},
  volume={58 5},
  pages={989-97}
}
Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case of hyperekplexia, we found a deletion of exons 1-6 of the GLRA1 gene. Born to consanguineous parents, the affected child is homozygous for this GLRA1(null) allele consistent with a complete loss of gene… CONTINUE READING

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