Variant: rs797044878 

    present in Gene: GNAO1
    present in Chromosome: 16
    Position on Chromosome: 56336763
    Alleles of this Variant: G/A;T

rs797044878 in GNAO1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

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

PMID 26060304 2016 Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.

PMID 27068059 2016 Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder.

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

PMID 28688840 2017 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

PMID 27625011 2016 Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.