Variant: rs1555883505 

    present in Gene: EEF1A2
    present in Chromosome: 20
    Position on Chromosome: 63490712
    Alleles of this Variant: G/A

rs1555883505 in EEF1A2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Global developmental delay PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Muscle hypotonia PMID 19636410 2009 Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation.

PMID 28378778 2017 Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.

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

PMID 26682508 2016 Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.

PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PMID 19909265 2009 eEF1A2 and neuronal degeneration.

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 28911200 2017 Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

PMID 24697219 2015 De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.

PMID 27441201 2016 Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.

rs1555883505 in EEF1A2 gene and Neurogenic Urinary Bladder PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Poor school performance PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Seizures PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Sleep disturbances PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Urinary Retention PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1555883505 in EEF1A2 gene and Vesico-Ureteral Reflux PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.