NPP Seminar: Dr Anders S. Kristensen, University of Copenhagen

Abstract: AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors are ligand-gated ion channels that mediate fast excitatory neurotransmission in the central nervous system (CNS), and are formed by homo- or heteromeric assembly of subunits encoded by the GRIA1-4 genes. As a result of increased use of diagnostic whole exome or genome sequencing, rare genetic single-nucleotide variants (denoted missense variants) that change single amino acids in AMPA receptor subunits are emerging as a significant cause of neurodevelopmental disorders (NDD). This talk will describe recent efforts to characterize and classify the effects of GRIA missense variants identified in NDD patients on the function and expression of AMPA receptors using electrophysiological assays and how different types of variant effects correlate to NDD patient phenotype.

Host: Mark Farrant/Stuart Cull-Candy

This seminar has been co-organized by Cecile Bats with the support of the Physiological Society