Click here to close
Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly.
We suggest using a current version of Chrome,
FireFox, or Safari.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Piard J, Béreau M, XiangWei W, Wirth T, Amsallem D, Buisson L, Richard P, Liu N, Xu Y, Myers SJ, Traynelis SF, Chelly J, Anheim M, Raynaud M, Maldergem LV, Yuan H.
R01HD082373 Eunice Kennedy Shriver National Institute of Child Health & Human Development, R01NS036654 National Institute of Neurologic Disorders and Stroke, R01NS065371 National Institute of Neurologic Disorders and Stroke, R24NS092989 National Institute of Neurologic Disorders and Stroke, R01 HD082373 NICHD NIH HHS , R01 NS065371 NINDS NIH HHS , R01 NS036654 NINDS NIH HHS , R24 NS092989 NINDS NIH HHS , R35 NS111619 NINDS NIH HHS
Allen,
De novo mutations in epileptic encephalopathies.
2013, Pubmed
Allen,
De novo mutations in epileptic encephalopathies.
2013,
Pubmed Amin,
A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.
2018,
Pubmed Bohlega,
Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.
2019,
Pubmed Bonnet,
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.
2009,
Pubmed Bonnet,
Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.
2012,
Pubmed Broix,
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.
2016,
Pubmed Chen,
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
2017,
Pubmed Chiyonobu,
Partial tandem duplication of GRIA3 in a male with mental retardation.
2007,
Pubmed Davies,
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
2017,
Pubmed Flicek,
Ensembl 2012.
2012,
Pubmed Gécz,
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation.
1999,
Pubmed Hackmann,
Partial deletion of GLRB and GRIA2 in a patient with intellectual disability.
2013,
Pubmed Hollmann,
Cloning by functional expression of a member of the glutamate receptor family.
1989,
Pubmed
,
Xenbase Jin,
A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
2015,
Pubmed Keinänen,
A family of AMPA-selective glutamate receptors.
1990,
Pubmed Lam,
A novel assay for measurement of membrane-protein surface expression using a β-lactamase.
2013,
Pubmed Li,
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
2016,
Pubmed Lyu,
[Analysis of a patient with X-linked mental retardation by next generation sequencing].
2018,
Pubmed Martin,
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
2017,
Pubmed Masri,
Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.
2017,
Pubmed Ogden,
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
2017,
Pubmed
,
Xenbase Parnes,
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations.
2019,
Pubmed Philippe,
Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
2013,
Pubmed Philips,
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
2014,
Pubmed Poot,
Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders.
2013,
Pubmed Sobolevsky,
X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor.
2009,
Pubmed Strehlow,
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
2019,
Pubmed Swanger,
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
2016,
Pubmed Traynelis,
Glutamate receptor ion channels: structure, regulation, and function.
2010,
Pubmed van der Veen,
Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.
2019,
Pubmed Wu,
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
2007,
Pubmed XiangWei,
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
2019,
Pubmed
