Associated Papers
Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.
Scorrano G et al.
International Journal of Molecular Sciences, 2024
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B et al.
Brain : a Journal of Neurology, 2024
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W et al.
Cellular and Molecular Life Sciences : Cmls, 2023
A high fat diet in glutamate 3-/Y mice causes changes in behavior that resemble human intellectual disability.
Li JM et al.
Physiology & Behavior, 2023
AMPA receptor structure and auxiliary subunits.
Kamalova A et al.
The Journal of Physiology, 2021
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
Trivisano M et al.
Seizure, 2020
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Piard J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2020
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.
Davies B et al.
Human Molecular Genetics, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.
Soto D et al.
Communicative & Integrative Biology, 2014
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
Arvio M et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2014
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation.
Bonnet C et al.
American Journal of Medical Genetics. Part A, 2009
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Wu Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007