Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

(2020) Ariadna Amador et al.   BRAIN

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

(2019) Wenshu XiangWei et al.   BRAIN

GRIN2D/GluN2D NMDA receptor: Unique features and its contribution to pediatric developmental and epileptic encephalopathy

(2019) Chad R. Camp et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

(2018) Andrew E Fry et al.   BRAIN

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

(2017) Yoav Zehavi et al.   European Journal of Medical 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

Precision Medicine: NMDA Receptor–Targeted Therapy for GRIN2D Encephalopathy

(2017) Jennifer A. Kearney   Epilepsy Currents

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

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

(2016) Dong Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

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

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

(2015) Chihiro Ohba et al.   EPILEPSIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

NMDA receptor structures reveal subunit arrangement and pore architecture

(2014) Chia-Hsueh Lee et al.   NATURE

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

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

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

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

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

(2009) Alexander I. Sobolevsky et al.   NATURE

The Activation Gate and Gating Mechanism of the NMDA Receptor

(2008) H.-R. Chang et al.   JOURNAL OF NEUROSCIENCE