Article
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
American journal of human genetics - 1 May 1996
Brune W, Weber R G, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck H M, Becker C M
Abstract excerpt
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...
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