The impact of human hyperekplexia mutations on glycine receptor structure and function.

Abstract excerpt

Hyperekplexia is a rare neurological disorder characterized by neonatal hypertonia, exaggerated startle responses to unexpected stimuli and a variable incidence of apnoea, intellectual disability and delays in speech acquisition. The majority of motor defects are successfully treated by clonazepam. Hyperekplexia is caused by hereditary mutations that disrupt the functioning of inhibitory glycinergic synapses in...

Topics

• Humans
• Ion Channel Gating
• Mutation
• Protein Subunits
• Receptors, Glycine
• Stiff-Person Syndrome