Hengel, Holger <br/><br/>
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.  [electronic resource] 

 -  Nature communications  01 2020 
 - 595 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2041-1723 
<br/><br/><label>Standard No.: </label>10.1038/s41467-020-14360-7  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alleles<br/>Animals<br/>Child<br/>Child, Preschool<br/>Epilepsy--genetics<br/>Female<br/>Genes, Recessive<br/>Humans<br/>Infant<br/>Kinetics<br/>Loss of Function Mutation--genetics<br/>Male<br/>Organoids--pathology<br/>Oxidoreductases--chemistry<br/>Pedigree<br/>Protein Domains<br/>Syndrome<br/>Uridine Diphosphate Glucose Dehydrogenase--genetics<br/>Zebrafish