Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.Y291N
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GNAO1

NM_020988.3:p.Y291N

Associated Papers

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

Wang T et al.

Epilepsia, 2025

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

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

Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.

Domínguez-Carral J et al.

Annals of Neurology, 2023

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

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

Al Masseri Z et al.

Molecular Genetics and Metabolism Reports, 2022

Humanization of Drosophila Gαo to Model GNAO1 Paediatric Encephalopathies.

Savitsky M et al.

Biomedicines, 2020

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

Kelly M et al.

Epilepsia, 2019

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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."