Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

H Hengel; C Bosso-Lefèvre; G Grady; E Szenker-Ravi; H Li; S Pierce; Stefan Barakat; Marjon Slegtenhorst; L Schöls; B Reversade

doi:10.1038/s41467-020-14360-7

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

H Hengel, C Bosso-Lefèvre, G Grady, E Szenker-Ravi, H Li, S Pierce, Stefan Barakat, Marjon Slegtenhorst, L Schöls, B Reversade

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

37 Citations (Scopus)

17 Downloads (Pure)

Original language	English
Journal	Nature Communications
Volume	11
DOIs	https://doi.org/10.1038/s41467-020-14360-7
Publication status	Published - 2020

Research programs

EMC OR-01

Access to Document

10.1038/s41467-020-14360-7

Repub_124422_O-A.pdfFinal published version, 5.13 MB

Cite this

@article{81fc2d54e2f54b56947d100e9be919fb,

title = "Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy",

author = "H Hengel and C Bosso-Lef{\`e}vre and G Grady and E Szenker-Ravi and H Li and S Pierce and Stefan Barakat and Marjon Slegtenhorst and L Sch{\"o}ls and B Reversade",

year = "2020",

doi = "10.1038/s41467-020-14360-7",

language = "English",

volume = "11",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Research",

}

TY - JOUR

T1 - Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

AU - Hengel, H

AU - Bosso-Lefèvre, C

AU - Grady, G

AU - Szenker-Ravi, E

AU - Li, H

AU - Pierce, S

AU - Barakat, Stefan

AU - Slegtenhorst, Marjon

AU - Schöls, L

AU - Reversade, B

PY - 2020

Y1 - 2020

U2 - 10.1038/s41467-020-14360-7

DO - 10.1038/s41467-020-14360-7

M3 - Article

C2 - 32001716

SN - 2041-1723

VL - 11

JO - Nature Communications

JF - Nature Communications

ER -