Variant: rs886041715 

    present in Gene: GNAO1;DKFZP434H168;LOC283856
    present in Chromosome: 16
    Position on Chromosome: 56192353
    Alleles of this Variant: G/A;C;T

rs886041715 in GNAO1;DKFZP434H168;LOC283856 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 PMID 25966631 2016 Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.

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

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

rs886041715 in GNAO1;DKFZP434H168;LOC283856 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 28357411 2017 GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

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

PMID 29390993 2018 Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.

rs886041715 in GNAO1;DKFZP434H168;LOC283856 gene and NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS PMID 27625011 2016 Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.

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.