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Results 1 - 1 of 1 for Hereditary hyperekplexia
  1. GLRA1 gene 
    ... the GLRA1 gene have been found to cause hereditary hyperekplexia. This condition is most often seen in infants ... Arg271Leu or R271L).GLRA1 gene mutations that cause hereditary hyperekplexia impair the ability of the glycine receptor protein ...
    https://medlineplus.gov/genetics/gene/glra1 - Genetics