A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia

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

Mechanism of NMDA Receptor Inhibition and Activation

(2016) Shujia Zhu et al.   CELL

NMDA receptor subunit mutations in neurodevelopmental disorders

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

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities

(2015) Yujia Zhang et al.   PLoS One

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novoGRIN2Amutation

(2014) Sunita Venkateswaran et al.   EPILEPSIA

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

Knockout of NMDA Receptors in Parvalbumin Interneurons Recreates Autism-Like Phenotypes

(2013) John A. Saunders et al.   Autism Research

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy

(2013) Seth P. DeVries et al.   PEDIATRIC NEUROLOGY

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The NMDA receptor complex as a therapeutic target in epilepsy: a review

(2011) Mehdi Ghasemi et al.   EPILEPSY & BEHAVIOR

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

(2011) Francesco Nicita et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Ligand-specific deactivation time course of GluN1/GluN2D NMDA receptors

(2011) Katie M. Vance et al.   Nature Communications

Genome-Wide Gene-Environment Study Identifies Glutamate Receptor Gene GRIN2A as a Parkinson's Disease Modifier Gene via Interaction with Coffee

(2011) Taye H. Hamza et al.   PLoS Genetics

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

Encephalopathy with status epilepticus during slow sleep: “The Penelope syndrome”

(2009) Carlo A. Tassinari et al.   EPILEPSIA

Control of NMDA Receptor Function by the NR2 Subunit Amino-Terminal Domain

(2009) H. Yuan et al.   JOURNAL OF NEUROSCIENCE

NMDA receptor subunit expression in GABAergic interneurons in the prefrontal cortex: Application of laser microdissection technique

(2008) Dong Xi et al.   JOURNAL OF NEUROSCIENCE METHODS

Zinc inhibition of rat NR1/NR2AN-methyl-d-aspartate receptors

(2007) Kevin Erreger et al.   JOURNAL OF PHYSIOLOGY-LONDON