Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2B
Variant:p.L643P
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GRIN2B

NM_000834.5:p.L643P

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

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

Spagnoli C et al.

Genes, 2021

34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1

Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation.

Kyriakopoulos P et al.

Child Neurology Open, 2018

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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."