De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases

Functional assessment of triheteromeric NMDA receptors containing a human variant associated with epilepsy

(2019) Katie F. M. Marwick et al.   JOURNAL OF PHYSIOLOGY-LONDON

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

(2019) Wenshu XiangWei et al.   BRAIN

Properties of TriheteromericN-Methyl-d-Aspartate Receptors Containing Two Distinct GluN1 Isoforms

(2018) Feng Yi et al.   MOLECULAR PHARMACOLOGY

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

(2018) Laura Fedele et al.   Nature Communications

Novel drugs and early polypharmacotherapy in status epilepticus

(2018) Marta Amengual-Gual et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

GRIN2A-related disorders: genotype and functional consequence predict phenotype

(2018) Vincent Strehlow et al.   BRAIN

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs

(2017) C. von Stülpnagel et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

(2017) Wenjuan Chen et al.   JOURNAL OF HUMAN GENETICS

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

(2017) Konrad Platzer et al.   JOURNAL OF MEDICAL GENETICS

Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

(2017) Wenjuan Chen et al.   MOLECULAR PHARMACOLOGY

GRIN2B gain of function mutations are sensitive to radiprodil, a negative allosteric modulator of GluN2B-containing NMDA receptors

(2017) Brice Mullier et al.   NEUROPHARMACOLOGY

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

(2017) Kevin K. Ogden et al.   PLoS Genetics

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

(2016) Sharon A. Swanger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human GRIN2B variants in neurodevelopmental disorders

(2016) Chun Hu et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Delineating the GRIN1 phenotypic spectrum

(2016) Johannes R. Lemke et al.   NEUROLOGY

NMDA receptor subunit mutations in neurodevelopmental disorders

(2015) Nail Burnashev et al.   CURRENT OPINION IN PHARMACOLOGY

A structural biology perspective on NMDA receptor pharmacology and function

(2015) Michael C Regan et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

(2015) Tarunashree Yavarna et al.   HUMAN GENETICS

Effect of a GRIN2A de novo mutation associated with epilepsy and intellectual disability on NMDA receptor currents and Mg2+ block in cultured primary cortical neurons

(2015) Katie Marwick et al.   LANCET

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

NMDA receptor structures reveal subunit arrangement and pore architecture

(2014) Chia-Hsueh Lee et al.   NATURE

Distinct Functional and Pharmacological Properties of Triheteromeric GluN1/GluN2A/GluN2B NMDA Receptors

(2014) Kasper B. Hansen et al.   NEURON

Crystal structure of a heterotetrameric NMDA receptor ion channel

(2014) E. Karakas et al.   SCIENCE

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

(2014) Hongjie Yuan et al.   Nature Communications

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Developmental Expression of N-Methyl-d-Aspartate (NMDA) Receptor Subunits in Human White and Gray Matter: Potential Mechanism of Increased Vulnerability in the Immature Brain

(2013) Lauren L. Jantzie et al.   CEREBRAL CORTEX

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Influence of GluN2 subunit identity on NMDA receptor function

(2013) D.J.A. Wyllie et al.   NEUROPHARMACOLOGY

Essential role of postsynaptic NMDA receptors in developmental refinement of excitatory synapses

(2013) Z.-w. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Novel Assay for Measurement of Membrane-Protein Surface Expression using a β-lactamase Reporter

(2013) Vincent M. Lam et al.   TRAFFIC

Molecular pharmacology of human NMDA receptors

(2011) Maiken Hedegaard et al.   NEUROCHEMISTRY INTERNATIONAL

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

(2010) S. F. Traynelis et al.   PHARMACOLOGICAL REVIEWS

Behavioral deficits and subregion-specific suppression of LTP in mice expressing a population of mutant NMDA receptors throughout the hippocampus

(2009) P. E. Chen et al.   LEARNING & MEMORY

X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor

(2009) Alexander I. Sobolevsky et al.   NATURE