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Paper Details

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
29
2020
Developmental epileptic encephalopathies, Glucose, UDP, UDP-Glucose 6-Dehydrogenase, UGDH, UGDH mutations, developmental delay, epileptic encephalopathy, epileptic seizures, glucose, glucuronic acid, human, hypotonia, loss-of-function alleles, mutant ugdh, patient, patients, primary fibroblasts, proliferating neuronal progenitors, recessive developmental epileptic encephalopathy, recessive epileptic encephalopathy, zebrafish
Author NameAffiliation
Sarah B PierceUniversity of Washington
Sarah B PierceUniversity of Washington
Sakkubai NaiduKennedy Krieger Institute
Renske OegemaUniversity Medical Center Utrecht
Ingo HelbigThe Children's Hospital of Philadelphia
David A KoolenRadboud University Medical Center
Eric W KleeMayo Clinic
Marco TartagliaIRCCS
Dirk J LefeberDonders Center for Brain
Dirk J Lefeber
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Saumya Shekhar JamuarKK Women's and Children's Hospital
Saumya Shekhar JamuarPaediatric Academic Clinical Programme, Duke-NUS Medical School
Saumya Shekhar Jamuar
Saumya Shekhar JamuarSingHealth Duke-NUS Institute of Precision Medicine
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