Variant: rs797045047 

    present in Gene: GRIN1
    present in Chromosome: 9
    Position on Chromosome: 137162510
    Alleles of this Variant: G/A;C

rs797045047 in GRIN1 gene and Movement Disorders PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

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

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 16402093 2006 The glutamate story.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 19854944 2010 The NCBI BioSystems database.

rs797045047 in GRIN1 gene and Muscle hypotonia PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

PMID 28051072 2017 Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 9526012 1998 Evidence for a tetrameric structure of recombinant NMDA receptors.

PMID 7679115 1993 Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 6306230 1983 Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 25838242 2015 The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo.

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

PMID 22974439 2013 Functional insights from glutamate receptor ion channel structures.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 17315208 2007 Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain.

PMID 16635252 2006 Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning.

PMID 16402093 2006 The glutamate story.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 2516786 1989 Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays.

PMID 17910072 2007 The chromosome 9q subtelomere deletion syndrome.

PMID 23937349 2013 Integrative mechanisms of oriented neuronal migration in the developing brain.

PMID 20890276 2010 Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PMID 16600850 2006 NMDA receptors, glial cells, and clinical medicine.

PMID 1834949 1991 Molecular cloning and characterization of the rat NMDA receptor.

PMID 22606296 2012 Overstimulation of NMDA receptors impairs early brain development in vivo.

PMID 22796429 2013 The NMDA receptor as a target for cognitive enhancement.

rs797045047 in GRIN1 gene and NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 27164704 2016 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

PMID 28228639 2017 GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

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

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 28389307 2017 De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy.

PMID 25864721 2015 GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.