Glycine Receptors and Hyperekplexia Part 1

Hyperekplexia is a rare genetic neurological condition. Individuals with it display increased muscle tone (hypertonia) and an exaggerated startle response. There are a number of different genes for which mutations can lead to hyperekplaxia. All of these genes code for proteins involved in glycine neurotransmission. In this video we look at how mutations in the glycine receptors themselves can lead to hyperekplexia.