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Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice

Neuron (Cambridge, Mass.), 2023-11, Vol.111 (21), p.3378-3396.e9

2023

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Potential Roles of Redox Dysregulation in the Development of Schizophrenia

Biological psychiatry (1969), 2020-08, Vol.88 (4), p.326-336

2020

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Genetik und genetische Diagnostik fokaler Epilepsien des Kindesalters – Was? Wann? Warum?

Clinical Epileptology, 2024-02, Vol.37 (1), p.9-15

2024

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Neurogenetic underpinnings of nicotine use severity: Integrating the brain transcriptomes and GWAS variants via network approaches

Psychiatry research, 2024-04, Vol.334, p.115815-115815, Article 115815

2024

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Association of GRIN2A (rs387906637) Gene Polymorphism with Epilepsy Susceptibility

Iraqi journal of science, 2021-01, p.108-115

2021

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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

Movement disorders, 2018-07, Vol.33 (6), p.992-999

2018

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ILAE Genetic Literacy Series: familial focal epilepsy syndromes

Epileptic disorders, 2022-04, Vol.24 (2), p.221-228

2022

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Exposure to anandamide on young rats causes deficits in learning, temporal perception and induces changes in NMDA receptor expression

Behavioural brain research, 2023-05, Vol.445, p.114377-114377, Article 114377

2023

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From bedside‐to‐bench: What disease‐associated variants are teaching us about the NMDA receptor

The Journal of physiology, 2021-01, Vol.599 (2), p.397-416

2021

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An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking

Cell reports (Cambridge), 2020-09, Vol.32 (9), p.108104-108104, Article 108104

2020

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Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum

Seizure (London, England), 2023-12, Vol.113, p.13-15

2023

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De novo GRIN2A variants associated with epilepsy and autism and literature review

Epilepsy & behavior, 2022-04, Vol.129, p.108604-108604, Article 108604

2022

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Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene

Journal of pediatric neurology, 2023-12, Vol.21 (6), p.437-439

2023

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Distinct roles of GRIN2A and GRIN2B variants in neurological conditions [version 1; peer review: awaiting peer review]

F1000 research, 2019, Vol.8, p.1940

2019

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Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy

Epilepsy research, 2020-07, Vol.163, p.106325-106325, Article 106325

2020

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GRIN2A mutations in epilepsy-aphasia spectrum disorders

Brain & development (Tokyo. 1979), 2018-03, Vol.40 (3), p.205-210

2018

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Language deficits in GRIN2A mutations and Landau–Kleffner syndrome as neural dysrhythmias

Journal of neurolinguistics, 2023-08, Vol.67, p.101139, Article 101139

2023

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Protective influences of N-acetylcysteine against alcohol abstinence-induced depression by regulating biochemical and GRIN2A, GRIN2B gene expression of NMDA receptor signaling pathway in rats

Neurochemistry international, 2018-09, Vol.118, p.73-81

2018

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Whole-genome sequencing identifies genomic heterogeneity at a nucleotide and chromosomal level in bladder cancer

Proceedings of the National Academy of Sciences - PNAS, 2014-02, Vol.111 (6), p.E672-E681

2014

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Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers

Frontiers in pharmacology, 2021-10, Vol.12, p.773455-773455

2021

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A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2

Epilepsia (Copenhagen), 2014-02, Vol.55 (2), p.370-378

2014

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Novel variants in established epilepsy genes in focal epilepsy

Seizure (London, England), 2023-08, Vol.110, p.146-152

2023

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Segregating polymorphism in the NMDA receptor gene GRIN2A, schizotypy, and mental rotation among healthy individuals

Neuropsychologia, 2018-08, Vol.117, p.347-351

2018

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Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations

Epileptic disorders, 2019-06, Vol.21 (S1), p.S41-S47

2019

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In-silico investigation of coding variants potentially affecting the functioning of the glutamatergic N-methyl-D-aspartate receptor in schizophrenia

Psychiatric genetics, 2019-04, Vol.29 (2), p.44-50

2019

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Brain-region-specific changes in neurons and glia and dysregulation of dopamine signaling in Grin2a mutant mice

Potential Roles of Redox Dysregulation in the Development of Schizophrenia

Genetik und genetische Diagnostik fokaler Epilepsien des Kindesalters – Was? Wann? Warum?

Neurogenetic underpinnings of nicotine use severity: Integrating the brain transcriptomes and GWAS variants via network approaches

Association of GRIN2A (rs387906637) Gene Polymorphism with Epilepsy Susceptibility

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

ILAE Genetic Literacy Series: familial focal epilepsy syndromes

Exposure to anandamide on young rats causes deficits in learning, temporal perception and induces changes in NMDA receptor expression

From bedside‐to‐bench: What disease‐associated variants are teaching us about the NMDA receptor

An Epilepsy-Associated GRIN2A Rare Variant Disrupts CaMKIIα Phosphorylation of GluN2A and NMDA Receptor Trafficking

Myoclonic status epilepticus in non-progressive encephalopathies within the GRIN2A-associated epilepsy-aphasia spectrum

De novo GRIN2A variants associated with epilepsy and autism and literature review

Myoclonus-Dystonia in an Individual with a Mutation in the GRIN2A Gene

Distinct roles of GRIN2A and GRIN2B variants in neurological conditions [version 1; peer review: awaiting peer review]

Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy

GRIN2A mutations in epilepsy-aphasia spectrum disorders

Language deficits in GRIN2A mutations and Landau–Kleffner syndrome as neural dysrhythmias

Protective influences of N-acetylcysteine against alcohol abstinence-induced depression by regulating biochemical and GRIN2A, GRIN2B gene expression of NMDA receptor signaling pathway in rats

Whole-genome sequencing identifies genomic heterogeneity at a nucleotide and chromosomal level in bladder cancer

Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers

A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2

Novel variants in established epilepsy genes in focal epilepsy

Segregating polymorphism in the NMDA receptor gene GRIN2A, schizotypy, and mental rotation among healthy individuals

Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations

In-silico investigation of coding variants potentially affecting the functioning of the glutamatergic N-methyl-D-aspartate receptor in schizophrenia

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