Variant: rs1555050165 

    present in Gene: GRIA4
    present in Chromosome: 11
    Position on Chromosome: 105926814
    Alleles of this Variant: A/G

rs1555050165 in GRIA4 gene and Movement Disorders PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

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

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 24721225 2014 X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.

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

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

PMID 8254358 1993 The differential expression of 16 NMDA and non-NMDA receptor subunits in the rat spinal cord and in periaqueductal gray.

PMID 21857658 2011 A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy.

PMID 20716669 2010 Glutamate receptor ion channels: structure, regulation, and function.

PMID 16487682 2006 NMDA-NR1 and AMPA-GluR4 receptor subunit immunoreactivities in the absence epileptic WAG/Rij rat.

PMID 18316356 2008 Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4.

PMID 20007474 2009 Atypical functional properties of GluK3-containing kainate receptors.

PMID 11036266 2000 Postnatal synaptic potentiation: delivery of GluR4-containing AMPA receptors by spontaneous activity.

PMID 19224531 2009 Glutamate receptors on myelinated spinal cord axons: II. AMPA and GluR5 receptors.

PMID 19946266 2009 X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor.

PMID 11340205 2001 Glia-synapse interaction through Ca2+-permeable AMPA receptors in Bergmann glia.

PMID 17989220 2007 Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.

PMID 1374769 1992 Light and electron immunocytochemical localization of AMPA-selective glutamate receptors in the rat brain.

PMID 12692178 2003 Extracellular vestibule determinants of Ca2+ influx in Ca2+-permeable AMPA receptor channels.

rs1555050165 in GRIA4 gene and NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES PMID 29220673 2017 De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.