Varaico: Literature-Extracted Genetic Variants

Gene:GNAO1
Variant:p.L199P
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GNAO1

NM_020988.3:p.L199P

Associated Papers

Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.

Larasati YA et al.

Molecular Autism, 2025

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

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

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

Solis GP et al.

The Journal of Clinical Investigation, 2024

Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder.

Baris RO et al.

Irish Journal of Medical Science, 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

Utility of genetic testing in pediatric epilepsy: Experience from a low to middle-income country.

Akbar F et al.

Epilepsy & Behavior Reports, 2022

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.

Zou D et al.

Brain : a Journal of Neurology, 2021

34145886 (PubMed )
Supplement: awab233_supplementary_data.pdf

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Spagnoli C et al.

International Journal of Molecular Sciences, 2021

33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf

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

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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."