Structure, function, and pharmacology of glutamate receptor ion channels

KB Hansen, LP Wollmuth, D Bowie, H Furukawa… - Pharmacological …, 2021‏ - Elsevier
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

NMDA receptor functions in health and disease: Old actor, new dimensions

JP Dupuis, O Nicole, L Groc - Neuron, 2023‏ - cell.com
N-Methyl-D-aspartate ionotropic glutamate receptors (NMDARs) play key roles in
synaptogenesis, synaptic maturation, long-term plasticity, neuronal network activity, and …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022‏ - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022‏ - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

Developmental and epileptic encephalopathies

IE Scheffer, S Zuberi, HC Mefford, R Guerrini… - Nature Reviews …, 2024‏ - nature.com
Developmental and epileptic encephalopathies, the most severe group of epilepsies, are
characterized by seizures and frequent epileptiform activity associated with developmental …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020‏ - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

The origin of NMDA receptor hypofunction in schizophrenia

K Nakazawa, K Sapkota - Pharmacology & therapeutics, 2020‏ - Elsevier
Abstract N-methyl-d-aspartate (NMDA) receptor (NMDAR) hypofunction plays a key role in
pathophysiology of schizophrenia. Since NMDAR hypofunction has also been reported in …

GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia

PJ Harrison, DM Bannerman - Molecular psychiatry, 2023‏ - nature.com
Involvement of the glutamate system, particularly N-methyl-D-aspartate (NMDA) receptor
hypofunction, has long been postulated to be part of the pathophysiology of schizophrenia …

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

T Singh, BM Neale, MJ Daly - MedRxiv, 2020‏ - medrxiv.org
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate
ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …

Epilepsy and developmental disorders: Next generation sequencing in the clinic

JD Symonds, A McTague - European Journal of Paediatric Neurology, 2020‏ - Elsevier
Abstract Background The advent of Next Generation Sequencing (NGS) has led to a
redefining of the genetic landscape of the epilepsies. Hundreds of single gene epilepsies …