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
Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Sjøstrøm E et al.
Clinical Genetics, 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
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
Okano S et al.
Human Genome Variation, 2023
Dysfunction of AMPA receptor GluA3 is associated with aggressive behavior in human.
Peng SX et al.
Molecular Psychiatry, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V et al.
American Journal of Human Genetics, 2022
35675825 (PubMed )
Supplement: mmc2.pdf
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K et al.
Human Genetics, 2022
X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.
Sun JH et al.
Plos Genetics, 2021
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