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Article

GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms

22 Sept 2023

Abstract excerpt

OBJECTIVE: N-methyl-d-aspartate (NMDA) receptors are expressed at synaptic sites, where they mediate fast excitatory neurotransmission. NMDA receptors are critical to brain development and cognitive function. Natural variants to the GRIN1 gene, which encodes the obligatory GluN1 subunit of the NMDA receptor, are associated with severe neurological disorders that include epilepsy, intellectual disability, and...

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PMID: 37734923
DOI: 10.1111/epi.17776

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