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Wide-ranging behavioral dysfunction in two mouse models of pathological human variants in the <i>GRIK2</i> kainate receptor gene

2025-08-08

Abstract excerpt

De novo variants in a subset of ionotropic glutamate receptor (iGluR) genes cause nonsyndromic neurodevelopmental disorders (NDDs) in individuals. Two recurrent variants in the kainate receptor (KAR) gene GRIK2 result in the gain-of-function (GoF) substitutions p.Ala657Thr and p.Thr660Lys in a critical pore-forming domain of the GluK2 subunit. Disorders in individuals with these variants manifest as intellectual...

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Literature Corpus work
48190ac8-8adf-5626-a6f4-f8decd03381c
DOI
10.1101/2025.08.08.667766
Open publication

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