Hyperekplexia is a genetic condition characterized by an exaggerated startle reaction to sudden loud sounds, movement, or touch. The muscles may stiffen as a result. Hyperekplexia is a rare condition.
Although postsynaptic glycine receptors (GlyRs) as αβ heteromers attract considerable research attention, little is known about the role of presynaptic GlyRs, likely α homomers, in diseases. Here, we ...
Mutations in glycine receptors (GlyRs) are the most common cause of hyperekplexia, or startle disease, but the underlying mechanisms are not known. A study published in Nature Neuroscience has shown ...
We've all had that feeling of "jumping out of our skin" when terrified, but when Andrew Latham is startled his whole body freezes up. The 38 year old suffers from a rare neurological disorder which ...
A new gene variant was identified in dogs to cause a neurological disorder known as hyperekplexia. It induces exaggerated startle responses to unexpected sounds, contact or other sudden stimuli. The ...