Article

A pathogenic missense mutation in kainate receptors elevates dendritic excitability and synaptic integration through dysregulation of SK channels

2023-06-22

Abstract excerpt

Numerous rare de novo variants that cause neurodevelopmental disorders (NDDs) occur within genes encoding synaptic proteins, including ionotropic glutamate receptors (iGluRs). However, in many cases it remains unclear how damaging missense variants affect brain function. Here we determined the physiological consequences of an NDD causing missense mutation in the GRIK2 kainate receptor (KAR) gene, that results in...

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Literature Corpus work: b37eebf2-0d09-58c2-8dfd-516e3b6ebd9f
DOI: 10.1101/2023.06.21.545929

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