Observational studyAnnals of neurology2023
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Observational study in Annals of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Outcome measurement in GNAO1-related disorder: Balancing global severity and domain-specific change.Developmental medicine and child neurology · 2026Article
- Consensus-based follow-up and treatment registry for GNAO1-associated disorder.Developmental medicine and child neurology · 2026Article
- Safety and feasibility of oral zinc for patients withEClinicalMedicine · 2026Article
- Deep Learning Pose Estimation for Phenotyping of Co-Occurring Hyperkinetic Movement Disorders.Annals of clinical and translational neurology · 2026Article
- Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.Annals of neurology · 2026Article
- Gnao1 acts as a gatekeeper to alleviate neuropathic pain by silencing pro-nociceptive signaling cascades.The journal of headache and pain · 2026Article
- G-protein regulatory network governs receptor internalization dynamics.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Severity-Based and Family-Centered Approaches to Deep Brain Stimulation in GNAO1-Related Disorders.Movement disorders clinical practice · 2026Article
- Conditional Modeling of GNAO1 Disorder Dissociates Circuit Specific Contributions to Pathology and Rationalizes Ameliorative Strategies.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- NovelGenes & diseases · 2026Article
- Dystonia Scales for Children: Challenges and Obstacles in DBS Practice.Movement disorders clinical practice · 2026Review
- Pathogenic Gαo Mutants Drive Dominant GPCR Coupling in GNAO1 Encephalopathies.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Building on European Reference Network for Rare Neurological Diseases (ERN-RND) Experience: Integrating Motor and Non-Motor Assessment in Pediatric Movement Disorders.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder.BBA advances · 2026Article
- Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.Molecular autism · 2025Article
- Severe upper airway dysfunction in GNAO1-related disorders.Italian journal of pediatrics · 2025Article
- Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.Epilepsia · 2025Observational
- Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers.Movement disorders clinical practice · 2025Article
- [Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report].Revista de neurologia · 2025Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
objectiveGNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are characterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype-phenotype correlation nor a clear severity score have been established for this disorder. The objective of this prospective and retrospective observational study was to develop a severity score for GNAO1-related disorders, and to delineate the correlation between the underlying molecular mechanisms and clinical severity.
methodsA total of 16 individuals with GNAO1-related disorders harboring 12 distinct missense variants, including four novel variants (p.K46R, p.T48I, p.R209P, and p.L235P), were examined with repeated clinical assessments, video-electroencephalogram monitoring, and brain magnetic resonance imaging. The molecular pathology of each variant was delineated using a molecular deconvoluting platform.
resultsThe patients displayed a wide variability in the severity of their symptoms. This heterogeneity was well represented in the GNAO1-related disorders severity score, with a broad range of results. Patients with the same variant had comparable severity scores, indicating that differences in disease profiles are not due to interpatient variability, but rather, to unique disease mechanisms. Moreover, we found a significant correlation between clinical severity scores and molecular mechanisms.
interpretationThe clinical score proposed here provides further insight into the correlation between pathophysiology and phenotypic severity in GNAO1-related disorders. We found that each variant has a unique profile of clinical phenotypes and pathological molecular mechanisms. These findings will contribute to better understanding GNAO1-related disorders. Additionally, the severity score will facilitate standardization of patients categorization and assessment of response to therapies in development. ANN NEUROL 2023;94:987-1004.
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