Landau-Kleffner Syndrome
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GRIN2A mutations were detected in four patients (G760S, D1385Y, C455Y and C231R) GRIN2A mutation was found in 11.1% (1 out of 9 cases) of LKS, and in 7.1% (3 out of 42 cases) of ABPE, but in none with ECSWS and BECTS.
|
29056244 |
2018 |
Landau-Kleffner Syndrome
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
We identified a de novo missense mutation in the GRIN2A gene in a patient with childhood focal epilepsy and acquired epileptic aphasia.
|
28182669 |
2017 |
Landau-Kleffner Syndrome
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations.
|
26806548 |
2016 |
Landau-Kleffner Syndrome
|
0.640 |
Biomarker
|
disease |
CTD_human |
Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology.
|
23933820 |
2013 |
Landau-Kleffner Syndrome
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
|
23933820 |
2013 |
Landau-Kleffner Syndrome
|
0.640 |
GermlineCausalMutation
|
disease |
ORPHANET |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
Landau-Kleffner Syndrome
|
0.640 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
|
23933819 |
2013 |
Landau-Kleffner Syndrome
|
0.640 |
GermlineCausalMutation
|
disease |
ORPHANET |
Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology.
|
23933820 |
2013 |
Landau-Kleffner Syndrome
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Landau-Kleffner Syndrome
|
0.640 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
|
28182669 |
2017 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
|
28126851 |
2017 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
|
28095420 |
2017 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
|
27839871 |
2016 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
|
24903190 |
2014 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
|
24504326 |
2014 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
|
23933820 |
2013 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
|
23933819 |
2013 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
|
23933818 |
2013 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
|
20890276 |
2010 |
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Bipolar Disorder
|
0.580 |
AlteredExpression
|
disease |
BEFREE |
Two of these showed differential expression in the CC of BD cases: RPS23 was significantly down-regulated (p = 0.0036, fc = 0.80), while GRIN2A showed suggestive evidence of down-regulation in BD (p = 0.056, fc = 0.65).
|
31652432 |
2019 |