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 features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP et al.
Human Molecular Genetics, 2024
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
XiangWei W et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene.
Rinaldi B et al.
Neurogenetics, 2022
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
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
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