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Article

Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

Clinical genetics - 1 Nov 2025

Sjøstrøm Emilie, Studniarczyk Dorota, Dou Xinyao, Dahl Rebekka S, Cruz Vincent, Wang Heng, Mercier Sandra, Deb Wallid, Besnard Thomas, Friedman Jennifer, Essid Miriam, Karoui Sana, Jemaa Lamia Ben, Benyounes Thouraya, Lesca Gaetan, Tonduti Davide, Iascone Maria, Orcesi Simona, Fradin Melanie, Dubourg Christèle, Napuri Silvia, Cull-Candy Stuart G, Coombs Ian D, Farrant Mark, Bayat Allan

Abstract excerpt

GRIA-related disorders arise from disease-causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-type glutamate receptors (AMPARs). Rare monoallelic GRIA1-4 variants affecting AMPAR function can potentially lead to neurodevelopmental disorders. The impact on AMPAR function may manifest as either gain-of-function (GOF) or loss-of-function (LOF)....

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Source

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Identifiers

PMID: 40391499
DOI: 10.1111/cge.14770
PMCID: PMC12501675

Genes

GRIA3
GRIA2
GRIA1
GRIA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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