Research 🇬🇧 Directly KS related

Metabolic collapse as a mechanism of developmental regression: convergent evidence from Kleefstra syndrome [18F]FDG-PET/CT imaging and Drosophila modelling

person biorxiv.org

calendar_today Aug 31, 2026

A bioRxiv preprint reports that people with Kleefstra syndrome 1 who had developmental regression showed reduced brain glucose metabolism on FDG-PET/CT. Fly models suggested EHMT1/G9a-related metabolic vulnerability, sleep disruption and possible effects of high-sugar feeding under stress.