BBB Seminar: Robert J. Harvey
Dysfunction of inhibitory glycinergic synapses in startle disease
Robert J. Harvey
Department of Pharmacology, UCL School of Pharmacy, London, UK
Defects in human glycinergic neurotransmission result in startle disease/hyperekplexia, characterised by noise- or touch-induced neonatal seizures, resulting in muscle stiffness and neonatal apnoea episodes. I will summarise the evidence that defective glycinergic transmission is the primary cause of startle disease, revealing new pathomechanisms affecting inhibitory glycine receptors and transporters. I will also provide an update on the use of zebrafish genetics, proteomics and exome sequencing to uncover new causes of startle disease in individuals that do not have mutations in known genes.
Chair: Maximiliano Suster , Neural Circuits and Behaviour Group, Uni Neuro, Uni Research AS