Pathophysiology of glycine transporters in glycinergic neurotransmission: hyperekplexia and pain
Pathophysiology of glycine transporters in glycinergic neurotransmission: hyperekplexia and pain
The group investigates glycinergic neurotransmission in health and different pathological scenarios such as hyperekplexia and pain. Hyperekplexia or startle disease (OMIM: 149400) is a rare neurological disorder, without specific treatment, characterized by pathological startle response to trivial stimuli that can be fatal in newborns. It is caused by the blockade of glycinergic inhibition by mutations in crucial synaptic proteins, such as the neuronal glycine transporter GlyT2. The aim is the search for personalized therapies for human hyperekplexia.