Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Defects in the GRIN2A gene, encoding the GluN2A subunit of NMDARs, cause slow-wave sleep (SWS)-related disorders of the epilepsy-aphasia spectrum (EAS). 31158310 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Alterations of the N-methyl-d-aspartate receptor (NMDAR) subunit GluN2A, encoded by GRIN2A, have been associated with a spectrum of neurodevelopmental disorders with prominent speech-related features, and epilepsy. 30544257 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. 31149903 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE No GRIN2A mutation was found in patients with a family history of febrile seizures or epilepsy. 29056244 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a. 30146685 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Together, these results enhance our understanding of the mechanistic regulation of NMDA receptor-dependent microglia-neuronal physical interactions phenomena by the GluN2A subunit that may be relevant in the mammalian brain during heightened glutamatergic neurotransmission such as epilepsy and ischemic stroke. 29339791 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE De novo GRIN2A mutations can give rise to a neurodevelopmental and movement disorder without epilepsy. 29644724 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. 28936771 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue. 28242877 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE We identified one de novo missense GRIN2A mutation (Asp731Asn, GluN2A(D731N)) in a child with unexplained epilepsy and DD. 28182669 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE We suggest that anti-NR2A antibodies play a role in the pathogenesis of NPSLE with seizure disorders. 28154472 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE This paper allows us to better delineate the clinical features of 16p13 microduplications that do not encompass CREBBP and, concurrently, to narrow the molecular region responsible for congenital heart defects in 16p duplications as well as to propose GRIN2A as a candidate gene for epilepsy. 28007608 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Genetic variants of the glutamate activated N-methyl-D-aspartate (NMDA) receptor (NMDAR) subunit GluN2A are associated with the hyperexcitable states manifested by epileptic seizures and interictal discharges in patients with disorders of the epilepsy-aphasia spectrum (EAS). 28611597 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. 28109652 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Most rare variants in GluN2A were associated with epilepsy, whereas GluN2B variants were associated with intellectual disability with or without seizures. 27839871 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Distinctive features of dysarthria and dyspraxia are found in individuals with GRIN2A mutations, often in the setting of epilepsy-aphasia syndromes; dysarthria has not been previously recognized in these disorders. 25596506 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Examples of that include the need to avoid specific drugs in Dravet syndrome and the ongoing investigations of the potential use of new directed therapies such as retigabine in KCNQ2-related epilepsies, quinidine in KCNT1-related epilepsies, and memantine in GRIN2A-related epilepsies. 26022171 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE The GluN2A subunit appears to be a locus for epilepsy, which holds important therapeutic implications. 25904555 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE We report two patients with a glutamate receptor ionotropic N-methyl-D-aspartate 2A mutation who presented with epilepsy. 24125812 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease CTD_human We did not detect pathogenic variants in GRIN2A in other epileptic encephalopathies (n = 475) nor in probands with benign childhood epilepsy with centrotemporal spikes (n = 81). 23933818 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE We sought to delineate the pathogenic role of GRIN2A in 519 probands with epileptic encephalopathies with diverse epilepsy syndromes. 23933818 2013
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE GRIN2A mutations have recently been identified in various epilepsies. 21883175 2011
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease CTD_human In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, we discovered a GRIN2A nonsense mutation in a three-generation family. 20890276 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 GeneticVariation disease BEFREE Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy. 20890276 2010
CUI: C0014544
Disease: Epilepsy
Epilepsy
0.400 Biomarker disease BEFREE Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. 20384727 2010