Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
By contrast, dysplastic neurons in the regions with epileptic cortical dysplasia showed intense NR2A/B-ir in the somata and their dendritic processes.
|
10506512 |
1999 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The specific requirement of NR2A and its downstream signaling for epileptogenesis implicates attractive new targets for the development of drugs that prevent epilepsy in patients with brain injury.
|
17234586 |
2007 |
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 |
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 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
GRIN2A mutations have recently been identified in various epilepsies.
|
21883175 |
2011 |
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 |
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 |
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 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The GluN2A subunit appears to be a locus for epilepsy, which holds important therapeutic implications.
|
25904555 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.
|
28242877 |
2017 |
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 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No GRIN2A mutation was found in patients with a family history of febrile seizures or epilepsy.
|
29056244 |
2018 |
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 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
De novo GRIN2A mutations can give rise to a neurodevelopmental and movement disorder without epilepsy.
|
29644724 |
2018 |
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 |
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 |