Clinical and functional consequences of GRIA variants in patients with neurological diseases

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

(2023) Scott J Myers et al.   HUMAN MOLECULAR GENETICS

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

(2022) Kohei Hamanaka et al.   HUMAN GENETICS

Rare coding variants in ten genes confer substantial risk for schizophrenia

(2022) Tarjinder Singh et al.   NATURE

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

(2022) Vardha Ismail et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A gain‐of‐function GRIA2 variant associated with neurodevelopmental delay and seizures: Functional characterization and targeted treatment

(2022) Ian D. Coombs et al.   EPILEPSIA

Three-dimensional missense tolerance ratio analysis

(2021) Riley E. Perszyk et al.   GENOME RESEARCH

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

(2021) Jia-Hui Sun et al.   PLoS Genetics

Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

(2021) Berardo Rinaldi et al.   NEUROGENETICS

Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels

(2021) Kasper B. Hansen et al.   PHARMACOLOGICAL REVIEWS

Case Report: A Novel De Novo Missense Mutation of the GRIA2 Gene in a Chinese Case of Neurodevelopmental Disorder With Language Impairment

(2021) Bingbo Zhou et al.   Frontiers in Genetics

The GRIA3 c. 2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus

(2020) Juliette Piard et al.   MOVEMENT DISORDERS

Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

(2020) Anna Alkelai et al.   JOURNAL OF HUMAN GENETICS

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Structural and functional insights into transmembrane AMPA receptor regulatory protein complexes

(2019) Edward C. Twomey et al.   JOURNAL OF GENERAL PHYSIOLOGY

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

(2018) Hui Guo et al.   GENETICS IN MEDICINE

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

(2017) Benjamin Davies et al.   HUMAN MOLECULAR 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

Channel opening and gating mechanism in AMPA-subtype glutamate receptors

(2017) Edward C. Twomey et al.   NATURE

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker et al.   NATURE NEUROSCIENCE

Effectiveness and tolerability of Perampanel in children, adolescents and young adults with refractory epilepsy: A UK national multicentre study

(2017) N. Swiderska et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

Structure and organization of heteromeric AMPA-type glutamate receptors

(2016) Beatriz Herguedas et al.   SCIENCE

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

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

(2014) Anju K Philips et al.   Orphanet Journal of Rare Diseases

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

(2014) Hongjie Yuan et al.   Nature Communications

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

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

Mechanism of Ca2+/calmodulin-dependent kinase II regulation of AMPA receptor gating

(2011) Anders S Kristensen et al.   NATURE NEUROSCIENCE

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

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