Hyperekplexia-associated mutations in the neuronal glycine transporter 2.

Abstract excerpt

Hyperekplexia or startle disease is a dysfunction of inhibitory glycinergic neurotransmission characterized by an exaggerated startle in response to trivial tactile or acoustic stimuli. Although rare, this disorder can have serious consequences, including sudden infant death. One of the most frequent causes of hyperekplexia are mutations in the SLC6A5 gene, encoding the neuronal glycine transporter 2 (GlyT2), a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mutation
• Share to Neurons
• Share to Receptors, Glycine