Associated Papers
Loss of the conserved switch III region in a G protein leads to severe pediatric encephalopathy.
Savitsky M et al.
Science Signaling, 2025
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.
Yadav S et al.
Frontiers in Cellular Neuroscience, 2025
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M et al.
Parkinsonism & Related Disorders, 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
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.
Sáez González M et al.
Human Mutation, 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
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M et al.
Human Molecular Genetics, 2022
34622282 (PubMed )
Supplement: supplementary_material_ddab296.docx
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M et al.
Epilepsia, 2019
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR et al.
Neurology. Genetics, 2017
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