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

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

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

(2020) Juliette Piard et al.   MOVEMENT DISORDERS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Neto proteins regulate gating of the kainate-type glutamate receptor GluK2 through two binding sites

(2019) Yan-Jun Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epilepsy and brain channelopathies from infancy to adulthood

(2019) Emanuele Bartolini et al.   NEUROLOGICAL SCIENCES

Genetic variation of GRIA3 gene is associated with vulnerability to methamphetamine dependence and its associated psychosis

(2018) Sri-arun Iamjan et al.   JOURNAL OF PSYCHOPHARMACOLOGY

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

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

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker et al.   NATURE NEUROSCIENCE

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

Protter: interactive protein feature visualization and integration with experimental proteomic data

(2013) Ulrich Omasits et al.   BIOINFORMATICS

Association of aGRIA3Gene Polymorphism With Migraine in an Australian Case-Control Cohort

(2013) Bridget H. Maher et al.   HEADACHE

Alternative Splicing of AMPA Subunits in Prefrontal Cortical Fields of Cynomolgus Monkeys Following Chronic Ethanol Self-Administration

(2012) Glen Acosta et al.   Frontiers in Psychiatry

Shared Genetic Background for Regulation of Mood and Sleep: Association of GRIA3 with Sleep Duration in Healthy Finnish Women

(2011) Siddheshwar Utge et al.   SLEEP

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility

(2010) Daniela Formicola et al.   BMC Medical Genetics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Endocytic Trafficking and Recycling Maintain a Pool of Mobile Surface AMPA Receptors Required for Synaptic Potentiation

(2009) Enrica Maria Petrini et al.   NEURON