Neuronal oscillatory imbalances in <i>GNAO1</i> ‐related disorders associated with disease severity
This study identifies quantitative EEG abnormalities in GNAO1-RD, characterized by increased delta power, decreased alpha power, and disrupted network dynamics indicative of an inhibition-dominant state. These findings align with molecular dysfunction caused by GNAO1 variants, highlighting the role of GNAO1 in maintaining E/I balance. The results provide neurophysiological insights into GNAO1-RD pathophysiology and suggest potential biomarkers for assessing disease severity and therapeutic interventions.
Authors
- Montserrat Fornaguera Marti
- Klaus Linkenkaer‐Hansen (ORCID: https://orcid.org/0000-0003-2140-9780)
- Hilgo Bruining (ORCID: https://orcid.org/0000-0003-0660-1969)
- Jana Domínguez‐Carral (ORCID: https://orcid.org/0000-0002-7197-7391)
- W.H. Ludlam (ORCID: https://orcid.org/0000-0002-2701-8791)
- Kirill A. Martemyanov (ORCID: https://orcid.org/0000-0002-9925-7599)
- Juan Darío Ortigoza‐Escobar (ORCID: https://orcid.org/0000-0002-6320-2641)
- Tongyu Wang (ORCID: https://orcid.org/0009-0008-6618-3088)
- Mar Junyent Segarra
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Instituto de Salud Carlos III (ES)
- University of Florida (US)
- Emma Kinderziekenhuis (NL)
- Amsterdam Neuroscience (NL)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Amsterdam University Medical Centers (NL)
- Institut de Recerca Sant Joan de Déu
- Universitat de Barcelona (ES)
- Vrije Universiteit Amsterdam (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Epilepsia
- Published
- 2025-06-27
- DOI
- https://doi.org/10.1111/epi.18513
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- China Scholarship Council