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Hyperekplexia

From SNPedia

OMIM describes hyperekplexia as an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli, defining at least three types as follows:

  • Type 1: caused by dominant or recessive mutations in the GLRA1 gene
  • Type 2: caused by recessively inherited mutations in the GLRB gene
  • Type 3: caused by dominant or recessive mutations in the SLC6A5 gene