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

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

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

(2015) Akemi J. Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NMDA receptor subunit mutations in neurodevelopmental disorders

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

GRIN1mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

(2015) Chihiro Ohba et al.   EPILEPSIA

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

Extrasynaptic NMDA Receptor Involvement in Central Nervous System Disorders

(2014) Matthew P. Parsons et al.   NEURON

Crystal structure of a heterotetrameric NMDA receptor ion channel

(2014) E. Karakas et al.   SCIENCE

GRIN2Amutation and early-onset epileptic encephalopathy: personalized therapy with memantine

(2014) Tyler Mark Pierson et al.   Annals of Clinical and Translational Neurology

Dendritic GluN2A Synthesis Mediates Activity-Induced NMDA Receptor Insertion

(2013) S. A. Swanger et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

GRIN2A mutations identified as key genetic drivers of epilepsy–aphasia spectrum disorders

(2013) Katie Kingwell   Nature Reviews Neurology

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism

(2012) Gaetan Lesca et al.   EPILEPSIA

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

Phenotypic characterization of a newGrin1mutant mouse generated by ENU mutagenesis

(2010) Tamio Furuse et al.   EUROPEAN 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

Assessment of NMDA receptor NR1 subunit hypofunction in mice as a model for schizophrenia

(2009) T. B. Halene et al.   GENES BRAIN AND BEHAVIOR

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

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