Associated Papers
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.
Mei D et al.
Orphanet Journal of Rare Diseases, 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
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
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
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.
Al Masseri Z et al.
Molecular Genetics and Metabolism Reports, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 2017
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