Variant: rs587777057 

    present in Gene: GNAO1
    present in Chromosome: 16
    Position on Chromosome: 56336744
    Alleles of this Variant: G/A

rs587777057 in GNAO1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 26485252 2015 Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

rs587777057 in GNAO1 gene and X-linked infantile spasms PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

PMID 23993195 2013 De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.

PMID 28202424 2017 GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.

PMID 27072799 2016 GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

PMID 28747448 2017 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.