NMDA receptor C-terminal domain signalling in development, maturity, and disease

K Haddow, PC Kind, GE Hardingham - International Journal of Molecular …, 2022 - mdpi.com
The NMDA receptor is a Ca2+-permeant glutamate receptor which plays key roles in health
and disease. Canonical NMDARs contain two GluN2 subunits, of which 2A and 2B are …

Mouse mutants in schizophrenia risk genes GRIN2A and AKAP11 show EEG abnormalities in common with schizophrenia patients

LE Herzog, L Wang, E Yu, S Choi, Z Farsi… - Translational …, 2023 - nature.com
Schizophrenia is a heterogeneous psychiatric disorder with a strong genetic basis, whose
etiology and pathophysiology remain poorly understood. Exome sequencing studies have …

Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy

CE Gjerulfsen, I Krey, C Klöckner, G Rubboli… - … Receptors: Methods and …, 2024 - Springer
N-methyl-D-aspartate receptors (NMDAR) are ligand-gated ion channels mediating
excitatory neurotransmission and are important for normal brain development, cognitive …

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

CR Camp, A Vlachos, C Klöckner, I Krey… - Communications …, 2023 - nature.com
N-methyl-D-aspartate receptors (NMDARs) are ligand-gated ionotropic glutamate receptors
that mediate a calcium-permeable component to fast excitatory neurotransmission. NMDARs …

Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants

DGY Thompson-Lake, FJ Liegeois, RO Braden… - Neurology …, 2024 - AAN Enterprises
Background and Objectives Pathogenic variants in GRIN2A are associated with a spectrum
of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders …

The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants

F Furia, AM Levy, M Theunis, MJ Bamshad… - Clinical …, 2024 - Wiley Online Library
ANK3 encodes ankyrin‐G, a protein involved in neuronal development and signaling.
Alternative splicing gives rise to three ankyrin‐G isoforms comprising different domains with …

Clinical phenotype and functional influence of GRIN2A variants in epilepsy‐aphasia syndrome

L Zhang, Y Duan, R Ma, J Han, N Pan, L Gao… - Epilepsia …, 2024 - Wiley Online Library
Objective N‐methyl‐D‐aspartate receptors are glutamate‐gated ion channels that play a
crucial role in brain function. Numerous inherited or de novo variants in the GRIN2A gene …

Brain excitability and synaptic plasticity in experimental epilepsy.

V Salari - 2024 - iris.univr.it
Epilepsy is a chronic neurological disorder characterized by repeated seizures, ie periods of
paroxysmal brain activity commonly attributed to an imbalance between excitatory and …

Loss of Grin2a Causes a Transient Delay in the Electrophysiological Maturation of Hippocampal Parvalbumin Interneurons: A Possible Mechanism for Transient Seizure Burden …

CR Camp, A Vlachos, C Klöckner, I Krey, TG Banke… - bioRxiv, 2021 - biorxiv.org
N-methyl-D-aspartate receptors (NMDARs) are excitatory glutamate-gated ion channels that
are expressed throughout the central nervous system. NMDARs mediate calcium entry into …