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A.Da Silva, S.B.Tene Tadoum, I.J.J.Muffels, R.Budhraja, L.Sturiale, A.Messina, M.Giladi, M.Taherzadeh, M.Fazeli, E.Bonneil, S.Khan, D.te Vruchte, Y.Yamanaka, G.Di Cristo, F.F.Hamdan, F.M.Platt, S.Tomatsu, Y.Haitin, T.Kozicz, P.Thibault, D.Garozzo, A.Pandey, E.Morava, E.Rossignol, A.V.Pshezhetsky 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 bioRxiv , (2025) DOI: Abstract: Developmental delay and seizures with or without movement abnormalities (OMIM 617836) caused by heterozygous pathogenic variants in the DHDDS gene (DHDDS-CDG) is a rare genetic disease that belongs to the progressive encephalopathy spectrum

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He Y, Wu W, Wu S, Zheng H-M, Li P, Sheng H-F, et al