EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
|
27616483 |
2016 |
Schizophrenia
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to determine (1) whether SNP variation in the genes (GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D) encoding the NMDA receptor were associated with schizophrenia; (2) whether GRIN gene variation in the offspring interacted with maternal herpes simplex virus-2 (HSV-2) seropositivity during pregnancy influencing the risk of schizophrenia later in life.
|
21919190 |
2011 |
Schizophrenia
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, the frameshift mutation in GRIN2C and splice site mutation in GRIN2D were genotyped in an independent sample set comprising 1877 SCZ cases, 382 ASD cases, and 2040 controls.
|
29317596 |
2018 |
Malignant neoplasm of breast
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Here we report six novel GRIN2D variants and one previously-described disease-associated GRIN2D variant in two patients with developmental and epileptic encephalopathy.
|
31504254 |
2019 |
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a de novo recurrent heterozygous missense mutation-c.1999G>A (p.Val667Ile)-in a NMDAR gene previously unrecognized to harbor disease-causing mutations, GRIN2D, identified by exome and candidate panel sequencing in two unrelated children with epileptic encephalopathy.
|
27616483 |
2016 |
Epileptic encephalopathy
|
0.130 |
GeneticVariation
|
disease |
BEFREE |
Recently, a de novo recurrent GRIN2D missense variant was found in two unrelated patients with developmental and epileptic encephalopathy.
|
30280376 |
2018 |
Global developmental delay
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy.
|
30280376 |
2018 |
Endometriosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.
|
28881265 |
2017 |
mathematical ability
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This study provides further evidence of GRIN2D variants being causal for epilepsy.
|
30280376 |
2018 |
Epilepsy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Overall, these results suggest that NMDAR antagonists can be useful as adjuvant epilepsy therapy in individuals with GRIN2D gain-of-function mutations.
|
27616483 |
2016 |
Herpes Simplex Infections
|
0.010 |
GeneticVariation
|
group |
BEFREE |
The aim of this study was to determine (1) whether SNP variation in the genes (GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D) encoding the NMDA receptor were associated with schizophrenia; (2) whether GRIN gene variation in the offspring interacted with maternal herpes simplex virus-2 (HSV-2) seropositivity during pregnancy influencing the risk of schizophrenia later in life.
|
21919190 |
2011 |
Developmental delay (disorder)
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy.
|
30280376 |
2018 |
Drug Resistant Epilepsy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified by whole exome sequencing novel heterozygous GRIN2D missense variants in three unrelated patients with severe developmental delay and intractable epilepsy.
|
30280376 |
2018 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
|
30280376 |
2018 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
|
30280376 |
2018 |
Schizophrenia
|
0.340 |
Biomarker
|
disease |
BEFREE |
Differential effect of NMDA receptor GluN2C and GluN2D subunit ablation on behavior and channel blocker-induced schizophrenia phenotypes.
|
31110197 |
2019 |
Schizophrenia
|
0.340 |
Biomarker
|
disease |
CTD_human |
Gene expression of NMDA receptor subunits in the cerebellum of elderly patients with schizophrenia.
|
19856012 |
2010 |
Schizophrenia
|
0.340 |
Biomarker
|
disease |
BEFREE |
We focused on the N-methyl-D-aspartate receptor subunit NR2D gene in the case-control study of schizophrenia.
|
16094258 |
2005 |
Nerve Degeneration
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
NR2D-containing NMDA receptors mediate tissue plasminogen activator-promoted neuronal excitotoxicity.
|
19911010 |
2010 |
Epileptic encephalopathy
|
0.130 |
Biomarker
|
disease |
HPO |
|
|
|
Dyskinetic syndrome
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|