Associated Papers
Recent insights into the implications of UGDH mutations for human developmental disease.
Harwood H et al.
Biochemical Society Transactions, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.
Martín ME et al.
Seizure, 2025
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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
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
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia.
Alaamery M et al.
Frontiers in Genetics, 2023
Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.
Mizumoto S et al.
Frontiers in Genetics, 2021
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
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).
Friedman D et al.
Npj Genomic Medicine, 2018
29619247 (PubMed )
Supplement: 41525_2018_48_MOESM2_ESM.xlsx › Sheet1
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