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

Asynchronous Movements Prior to Pore Opening in NMDA Receptors

(2013) R. Kazi et al.   JOURNAL OF NEUROSCIENCE

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

Molecular bases and clinical spectrum of early infantile epileptic encephalopathies

(2012) Y. Jane Tavyev Asher et al.   European Journal of Medical Genetics

Clinical review of genetic epileptic encephalopathies

(2012) Grace J. Noh et al.   European Journal of Medical Genetics

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

A single GluN2 subunit residue controls NMDA receptor channel properties via intersubunit interaction

(2012) Beth Siegler Retchless et al.   NATURE NEUROSCIENCE

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

Local constraints in either the GluN1 or GluN2 subunit equally impair NMDA receptor pore opening

(2011) Iehab Talukder et al.   JOURNAL OF GENERAL PHYSIOLOGY

Arrangement of Subunits in Functional NMDA Receptors

(2011) C. L. Salussolia et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

(2011) Xiaomu Wei et al.   NATURE GENETICS

Molecular pharmacology of human NMDA receptors

(2011) Maiken Hedegaard et al.   NEUROCHEMISTRY INTERNATIONAL

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

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

New advances in NMDA receptor pharmacology

(2011) Kevin K. Ogden et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

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

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

(2011) J Tarabeux et al.   Translational Psychiatry

Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing

(2010) J. K. Teer et al.   GENOME RESEARCH

Specific Sites within the Ligand-Binding Domain and Ion Channel Linkers Modulate NMDA Receptor Gating

(2010) I. Talukder et al.   JOURNAL OF NEUROSCIENCE

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

Genetic mechanisms in idiopathic epilepsies

(2009) Yvonne G Weber et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin

(2009) S. E. Heron et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

(2009) Alexander I. Sobolevsky et al.   NATURE

The NR1 M3 Domain Mediates Allosteric Coupling in the N-Methyl-D-aspartate Receptor

(2008) M. L. Blanke et al.   MOLECULAR PHARMACOLOGY