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Article

Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.

Clinical genetics - 1 Oct 2024

Tvergaard Nicolai Kohring, Tkemaladze Tinatin, Stödberg Tommy, Kvarnung Malin, Tatton-Brown Katrina, Baralle Diana, Tümer Zeynep, Bayat Allan

Abstract excerpt

Ionotropic glutamate receptors (iGluRs), specifically α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs), play a crucial role in orchestrating excitatory neurotransmission in the brain. AMPARs are intricate assemblies of subunits encoded by four paralogous genes: GRIA1-4. Functional studies have established that rare GRIA variants can alter AMPAR currents leading to a loss- or...

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Source

Identifiers

PMID: 38890806
DOI: 10.1111/cge.14577

Genes

GRIA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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