Variant: rs1250662891 

    present in Gene: GRIN2A
    present in Chromosome: 16
    Position on Chromosome: 10180176
    Alleles of this Variant: G/C

rs1250662891 in GRIN2A gene and EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 24903190 2014 Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

PMID 23933820 2013 GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

PMID 23933819 2013 Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

PMID 27839871 2016 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

PMID 24504326 2014 Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

PMID 28095420 2017 Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

PMID 28126851 2017 Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.

PMID 28182669 2017 A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 23933818 2013 GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

rs1250662891 in GRIN2A gene and Epilepsy, Rolandic PMID 29358611 2018 Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.