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

The N‐methyl‐D‐aspartate receptors (NMDARs) are ionotropic glutamate receptors that
mediate the flux of calcium (Ca2+) into the post‐synaptic compartment. Ca2+ influx …

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

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 …

N-Methyl-d-aspartate receptors (NMDARs), encoded by GRIN genes, are ionotropic
glutamate receptors playing a critical role in synaptic transmission, plasticity, and synapse …

Memory dysfunction is a symptomatic feature of many neurologic and neuropsychiatric
disorders; however, the basic underlying mechanisms of memory and altered states of …

Cholesterol is a structural component of cellular membranes particularly enriched in
synapses but its role in synaptic transmission remains poorly understood. We used rat …

Autosomal dominant mutations in GRIN2B are associated with severe encephalopathy, but
little is known about the pathophysiological outcomes and any potential therapeutic …

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 …