@misc{indiciae5e8da40e601b, title = {Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy.}, author = {Da Silva, A. and Tene Tadoum, S. B. and Muffels, I. J. J. and Budhraja, R. and Sturiale, L. and Messina, A. and Giladi, M. and Taherzadeh, M. and Fazeli, M. and Bonneil, E. and Khan, S. and te Vruchte, D. and Yamanaka, Y. and Di Cristo, G. and Hamdan, F. F. and Platt, F. M. and Tomatsu, S. and Haitin, Y. and Kozicz, T. and Thibault, P. and Garozzo, D. and Pandey, A. and Morava, E. and Rossignol, E. and Pshezhetsky, A. V.}, year = {2025}, doi = {10.1101/2025.08.15.670547}, url = {https://www.biorxiv.org/content/10.1101/2025.08.15.670547v1}, note = {Source identifier: 10.1101/2025.08.15.670547} }