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Rapid Communication | Open Access

Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

Gonzalo P. Solisa,1, Federica Rachele Dantib,1, Yonika A. Larasatia,1, Federica Graziolab, Carolina Crocic, Elisa Osannid, Alexey Kovala, Giovanna Zorzib( ), Vladimir L. Katanaeva( )
Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, Switzerland
Child Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy
Child Neuropsychiatry and Child and Adolescent Psychology, Department of Mental Health and Pathological Addiction, AUSL Piacenza, Piacenza 29121, Italy
Scientific Institute, IRCCS E. Medea, Epilepsy and Clinical Neurophysiology Unit, Conegliano, Treviso 31015, Italy

1 These authors contributed equally to this work.

Peer review under the responsibility of the Genes & Diseases Editorial Office, in alliance with the Association of Chinese Americans in Cancer Research (ACACR, Baltimore, MD, USA).

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Genes & Diseases
Volume 12 Issue 5,
September 2025
Article number: 101522
DOI: 10.1016/j.gendis.2025.101522

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Solis GP, Danti FR, Larasati YA, et al. Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction. Genes & Diseases, 2025, 12(5): 101522. https://doi.org/10.1016/j.gendis.2025.101522

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Received: 13 August 2024
Published: 09 January 2025
© 2025 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).