Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
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Hengel H, et al. Among authors: ciruna b.
Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.
Nat Commun. 2020.
PMID: 32001716
Free PMC article.
