Associated Papers
Non-Convulsive Status Epilepticus and Mild Neurodevelopmental Phenotype in a Female with a Novel p.Thr657Ala Variant in the GRIA3 Gene.
Rubino A et al.
Children (basel, Switzerland), 2025
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
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy.
Trivisano M et al.
Seizure, 2020
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
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
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