A. Pshezhetsky

Mice with the mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits.

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. It results in cognitive delay in affected children, accompanied by myoclonus,...