Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights
Our results broaden the clinical and mechanistic spectrum of GNAO1-related disorders, showing that severe speech disorders and ID can occur as defining features even in the absence of seizures or movement disorders. These findings highlight the importance of including GNAO1 in genetic testing for children with severe speech disorders.
Authors
- Manju A. Kurian (ORCID: https://orcid.org/0000-0003-3529-5075)
- Yonika Arum Larasati (ORCID: https://orcid.org/0000-0002-9423-0768)
- Anne Koy (ORCID: https://orcid.org/0000-0002-7991-4432)
- Alexey Koval (ORCID: https://orcid.org/0000-0002-8920-4426)
- Gonzalo P. Solis (ORCID: https://orcid.org/0000-0002-2359-3780)
- Angela Tamsin Morgan (ORCID: https://orcid.org/0000-0003-1147-7405)
- Vladimir L. Katanaev (ORCID: https://orcid.org/0000-0002-7909-5617)
- Moritz Thiel (ORCID: https://orcid.org/0000-0003-0019-3060)
- Ainara Salazar‐Villacorta (ORCID: https://orcid.org/0000-0002-5753-2687)
Institutions
- University of Geneva (CH)
- Royal Children's Hospital (AU)
- The University of Melbourne (AU)
- Queen Mary University of London (GB)
- University of Cologne (DE)
- Great Ormond Street Hospital (GB)
- Hamad bin Khalifa University (QA)
- Murdoch Children's Research Institute (AU)
- University Hospital Cologne (DE)
- University College London (GB)
Publication Details
- Journal
- Molecular Autism
- Published
- 2025-12-12
- DOI
- https://doi.org/10.1186/s13229-025-00696-8
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00