Varaico: Literature-Extracted Genetic Variants

Gene:GRIN1
Variant:p.M818T
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GRIN1

NM_007327.4:p.M818T

Associated Papers

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.

Karnstedt M et al.

Epilepsia, 2026

Inhibition of GluN2B-containing N-methyl-d-aspartate receptors by radiprodil.

Banke TG et al.

Brain : a Journal of Neurology, 2025

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Montanucci L et al.

Human Molecular Genetics, 2025

39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Brock S et al.

Journal of Medical Genetics, 2023

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

Platzer K et al.

Journal of Medical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."