Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2A
Variant:p.K374_V375Splc
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GRIN2A

NM_001134407.3:p.K374_V375Splc

Associated Papers

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

Lemke JR et al.

Molecular Psychiatry, 2026

41087560 (PubMed )
Supplement: 41380_2025_3279_MOESM2_ESM.xlsx › final

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Ngoh A et al.

Annals of Neurology, 2025

40944498 (PubMed )
Supplement: ANA-98-951-s001.docx

Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons.

Camp CR et al.

Communications Biology, 2023

37723282 (PubMed )
Supplement: 42003_2023_5298_MOESM1_ESM.pdf

GRIN2A-related disorders: genotype and functional consequence predict phenotype.

Strehlow V et al.

Brain : a Journal of Neurology, 2019

30544257 (PubMed )
Supplement: awy304_supp.zip › awy304-suppl_data › brain-2018-01122-File012.xlsx › Tabelle1

Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Kessi M et al.

Bmc Genetics, 2018

New genes for focal epilepsies with speech and language disorders.

Turner SJ et al.

Current Neurology and Neuroscience Reports, 2015

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Lesca G et al.

Nature Genetics, 2013

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