Back to Search
Start Over
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Source :
- Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
- Publication Year :
- 2020
- Publisher :
- Nature Portfolio, 2020.
-
Abstract
- UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report 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.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 11
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.669f0574667343e2aba272d086c020c6
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-020-14360-7