Hyperekplexia

About the Disease
Hyperekplexia, also known as hereditary hyperekplexia, is related to hyperekplexia 1 and hyperekplexia 2, and has symptoms including fever, muscle rigidity and opisthotonus. An important gene associated with Hyperekplexia is GLRA1 (Glycine Receptor Alpha 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Beta-2 adrenergic-dependent CFTR expression. The drugs Prednisone and Cytarabine have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and spinal cord, and related phenotypes are spasticity and hyperreflexia

Common Targets
GLRA1 | GLRB | ARHGEF9 | GLRA3 | ZFPM2 | CNR2 | SLC6A5

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