hyperekplexia

Summary

Summary: A neurological disorder characterized by an excessive startle reaction with ABNORMAL REFLEX; MYOCLONIC JERKS; and MUSCLE HYPERTONIA.

Top Publications

  1. Yang Z, Sun G, Yao F, Tao D, Zhu B. A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature. BMC Med Genet. 2017;18:110 pubmed publisher
    The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1...