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

Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

(2019) Saeed A. Bohlega et al.   PARKINSONISM & RELATED DISORDERS

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

(2019) Wenshu XiangWei et al.   BRAIN

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

(2019) Sterre Veen et al.   MOVEMENT DISORDERS

A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability

(2018) Johansen B. Amin et al.   Nature Communications

GRIN2A-related disorders: genotype and functional consequence predict phenotype

(2018) Vincent Strehlow et al.   BRAIN

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

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

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

(2016) Loïc Broix et al.   NATURE GENETICS

A novel 47.2Mb duplication on chromosomal bands Xq21.1–25 associated with mental retardation

(2015) Zhijuan Jin et al.   GENE

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

Xq25 duplications encompassingGRIA3andSTAG2genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance

(2013) Anne Philippe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

A Novel Assay for Measurement of Membrane-Protein Surface Expression using a β-lactamase Reporter

(2013) Vincent M. Lam et al.   TRAFFIC

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

(2012) Karl Hackmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ ofGRIA3is associated withGRIA3silencing and X-linked intellectual disability

(2011) Céline Bonnet et al.   HUMAN MUTATION

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

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

AberrantGRIA3transcripts with multi-exon duplications in a family with X-linked mental retardation

(2009) C. Bonnet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2009) Alexander I. Sobolevsky et al.   NATURE