Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome FDG-PET/CT imaging and Drosophila modelling
Spencer G. Jones, Arianne Bouman, Nicholas Raun, Evelien A. J. van Genugten, Isabel Martínez-Blázquez, Franziska Kampshoff, Janine Doorduin, Joyce M. Geelen, Hilgo Bruining, Karlijn Vermeulen, Stéphanie Miot, David Geneviève, Erik H.J.G. Aarntzen, Mireia Coll-Tané, Tjitske Kleefstra, Annette Schenck
This study links metabolic vulnerability and sleep disturbances in Kleefstra syndrome using FDG-PET/CT imaging and Drosophila models.
bioRxiv · Aug 31, 2026 · PreprintGenetics