Associated Papers
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency.
Suyo C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.
Jiang L et al.
Molecular Genetics & Genomic Medicine, 2023
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H et al.
Nature Communications, 2020
A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia.
Alhamoudi KM et al.
Frontiers in Pediatrics, 2020
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