Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.Y231C
Back to variants list

GNAO1

NM_020988.3:p.Y231C

Associated Papers

Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.

Wang T et al.

Epilepsia, 2025

Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.

Katanaev VL et al.

Embo Molecular Medicine, 2025

40745211 (PubMed )
Supplement: 44321_2025_274_MOESM1_ESM.pdf

Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies.

Larasati YA et al.

Medcomm, 2025

Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.

Larasati YA et al.

Med (new York, N.y.), 2025

Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.

Yadav S et al.

Frontiers in Cellular Neuroscience, 2025

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

Lasa-Aranzasti A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.

Solis GP et al.

The Journal of Clinical Investigation, 2024

Molecular annotation of G protein variants in a neurological disorder.

Knight KM et al.

Cell Reports, 2023

37980565 (PubMed )
Supplement: NIHMS1950750-supplement-Suppl__material.zip › 1-s2.0-S2211124723014742-mmc6.pdf

Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.

Thiel M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.

JoJo Yang QZ et al.

Epilepsy & Behavior Reports, 2023

36654732 (PubMed )
Supplement: mmc1.xlsx › Draft

Phenotypes in children with GNAO1 encephalopathy in China.

Li Y et al.

Frontiers in Pediatrics, 2023

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.

Al Masseri Z et al.

Molecular Genetics and Metabolism Reports, 2022

Phenotypes of GNAO1 Variants in a Chinese Cohort.

Yang X et al.

Frontiers in Neurology, 2021

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Kelly M et al.

Epilepsia, 2019

Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.

Feng H et al.

Plos One, 2019

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

Feng H et al.

Neurology, 2017

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Danti FR et al.

Neurology. Genetics, 2017

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

Menke LA et al.

Journal of Child Neurology, 2016

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

Marcé-Grau A et al.

Orphanet Journal of Rare Diseases, 2016

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Talvik I et al.

Child Neurology Open, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."