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In vivo testing of IACS-16898 All in vivo work was approved by the UTMDACC IACUC under protocol # 00000884

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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