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
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
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
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

Sign up to follow this feed and discover related papers.

Related Feeds

22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused as a result of a partial deletion of chromosome 22. Here is the latest research.

4H Leukodystrophy

4H Lekodystrophy involves hypomyelination, hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. There is not yet a known cure.


Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

Adenomatous Polyposis Coli

Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.

Adult Polyglucosan Body Disease

Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.

Alzheimer's Disease: Abeta

Alzheimer's disease (AD) is a chronic neurodegenerative disease associated with accumulation of amyloid plaques, which are comprised of amyloid beta. Here is the latest research in this field.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.


Autism spectrum disorder is associated with challenges with social skills, repetitive behaviors, and often accompanied by sensory sensitivities and medical issues. Here is the latest research.

Bullous Pemphigoid

Bullous pemphigoid is a chronic and relatively benign subepidermal blistering disease usually of the elderly and without histopathologic acantholysis. Discover the latest research on bullous pemphigoid here.

CLOVES Syndrome

Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research.

© 2020 Meta ULC. All rights reserved