2020 journal article
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
NATURE COMMUNICATIONS, 11(1).
MeSH headings : Adolescent; Alleles; Animals; Child; Child, Preschool; Epilepsy / genetics; Female; Genes, Recessive; Humans; Infant; Kinetics; Loss of Function Mutation / genetics; Male; Organoids / pathology; Oxidoreductases / chemistry; Oxidoreductases / genetics; Pedigree; Protein Domains; Syndrome; Uridine Diphosphate Glucose Dehydrogenase / genetics; Zebrafish
TL;DR:
Biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro are reported.
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UN Sustainable Development Goal Categories
3. Good Health and Well-being
(Web of Science)
Source: Web Of Science
Added: July 20, 2020
Abstract