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Article

Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2024

Gjerulfsen Cathrine E, Krey Ilona, Klöckner Chiara, Rubboli Guido, Lemke Johannes R, Møller Rikke S

Abstract excerpt

N-methyl-D-aspartate receptors (NMDAR) are ligand-gated ion channels mediating excitatory neurotransmission and are important for normal brain development, cognitive abilities, and motor functions. Pathogenic variants in the Glutamate receptor Ionotropic N-methyl-D-aspartate (GRIN) genes (GRIN1, GRIN2A-D) encoding NMDAR subunits have been associated with a wide spectrum of neurodevelopmental disorders and...

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Source

Identifiers

PMID: 38727899
DOI: 10.1007/978-1-0716-3830-9_1

Genes

GRIN2A
GRIN2B
GRIN1

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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