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

49 Citations (Scopus)

39 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

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10.1038/s41467-020-14360-7

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Cite this

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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",

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language = "English",

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journal = "Nature Communications",

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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 -