GRIN Disorder

GRIN Disorder is a rare genetic disease characterized by mutations on genes that encode the NMDA receptor, such as GRIN1, GRIN2A, GRIN2B and GRIN2D. Symptoms include seizures, speech deficiency, and inability to walk. Discover the latest research on GRIN Disorders here.

January 14, 2020
Preprint
Open Access

Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders

BioRxiv : the Preprint Server for Biology
Eric S FrankelSampathkumar Rangasamy
September 11, 2019
Case Report
Open Access

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy

Brain : a Journal of Neurology
Wenshu XiangWeiYuwu Jiang
June 23, 2019

Differential expression of synaptic markers regulated during neurodevelopment in a rat model of schizophrenia-like behavior

Progress in Neuro-psychopharmacology & Biological Psychiatry
Betina ElfvingSusana Aznar
August 9, 2018
Open Access

Noonan Syndrome-Associated SHP2 Dephosphorylates GluN2B to Regulate NMDA Receptor Function

Cell Reports
Aaron D LevyAnthony J Koleske
September 25, 2019
Open Access

An autism-associated mutation in GluN2B prevents NMDA receptor trafficking and interferes with dendrite growth

Journal of Cell Science
Michael P SceniakShasta L Sabo
September 12, 2018
Open Access

Parkinson's disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons

BMC Biology
Mei ZhuClarissa Waites
August 16, 2019
Preprint
Open Access

Modeling and treating GRIN2A developmental and epileptic encephalopathy in mice

BioRxiv : the Preprint Server for Biology
Ariadna AmadorWayne N Frankel
June 7, 2019

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Brain & Development
Toshiyuki YamamotoNobuhiko Okamoto
October 13, 2020
Open Access

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

Human Molecular Genetics
Ana Santos-GómezXavier Altafaj
December 14, 2018
Open Access

GRIN2A-related disorders: genotype and functional consequence predict phenotype

Brain : a Journal of Neurology
Vincent StrehlowGRIN2A study group
August 22, 2018
Case Report

Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Marie-Laure MathieuGaetan Lesca
June 19, 2018
Open Access

The influence of adolescent nicotine exposure on ethanol intake and brain gene expression

PloS One
Constanza P SilvaHelen M Kamens
October 4, 2018
Case Report
Open Access

GRIN2D variants in three cases of developmental and epileptic encephalopathy

Clinical Genetics
Naomi TsuchidaNaomichi Matsumoto
July 20, 2018
Preprint
Open Access

Parkinson's disease-linked Parkin mutations impair glutamatergic synaptic transmission and plasticity

BioRxiv : the Preprint Server for Biology
Mei ZhuClarissa Waites
July 1, 2020

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Gabrielle RudolfGaetan Lesca

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