Article

Mice with mono-allelic p.R37H <i>Dhdds</i> variant show aberrant glycosylation and interneuron deficits

2025-08-21

Abstract excerpt

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, seizures, ataxia and tremor, which worsens over time. DHDDS encodes a subunit of a DHDDS/NUS1 c...

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Literature Corpus work: e38e5379-715a-5b4c-aee1-597d11253510
DOI: 10.1101/2025.08.15.670547

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