Great to be part of this team! 🎉🍾
Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits academic.oup.com/brain/articl...
academic.oup.com
Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits
Da Silva et al. develop the first mouse model of DHDDS-related progressive epileptic encephalopathy, showing that a disease-causing Dhdds variant produces