Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

Considerable genetic variation of N-methyl-d-aspartate receptors (NMDARs) has recently
become apparent, with many hundreds of de novo variants identified through widely …

Advances in sequencing technology have generated a large amount of genetic data from
patients with neurological conditions. These data have provided diagnosis of many rare …

Rapid advances in sequencing technology have led to an explosive increase in the number
of genetic variants identified in patients with neurological disease and have also enabled …

The GRIN2B-related neurodevelopmental disorder is a rare disease caused by mutations in
the GRIN2B gene, which encodes the GluN2B subunit of NMDA receptors. Most individuals …

GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate
(AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for …

Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

The NMDA receptor-mediated Ca2+ signaling during simultaneous pre-and postsynaptic
activity is critically involved in synaptic plasticity and thus has a key role in the nervous …

NMDA receptors (NMDARs) are glutamate‐gated ion channels that contribute to nearly all
brain processes. Not surprisingly then, genetic variations in the genes encoding NMDAR …

Kinetics of NMDA receptor (NMDAR) ion channel opening and closing contribute to their
unique role in synaptic signaling. Agonist binding generates free energy to open a canonical …