ArticleFrontiers in genetics2023
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.
Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Glycosylation disorders in pediatric epilepsy: pathophysiology, imaging and precision therapy.Frontiers in neurology · 2026Review
- Recent insights into the implications of UGDH mutations for human developmental disease.Biochemical Society transactions · 2025Review
- UDP-glucose dehydrogenase variants cause dystroglycanopathy.Annals of clinical and translational neurology · 2025Article
- Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.Scientific reports · 2025Article
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Authors and funding
9 authors.
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Abstract
Congenital disorders of glycosylation (CDG) are a group of more than 100 rare genetic disorders characterized by impaired glycosylation of proteins and lipids. The clinical presentation of CDG varies tremendously, from single-organ to multi-organ involvement and from prenatal death to a normal adult phenotype. In this case study, we report a large consanguineous family with multiple children suffering from cerebral palsy, seizure, developmental and epileptic encephalopathy, and global developmental delay. Whole-exome sequencing (WES) analysis revealed a homozygous variant in the
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