Mignon-Ravix, Cécile <br/><br/>
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.  [electronic resource] 

 -  Human mutation  07 2018 
 - 934-938 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23534  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Consanguinity<br/>Epilepsies, Myoclonic--genetics<br/>Epileptic Syndromes--genetics<br/>Female<br/>Genetic Predisposition to Disease<br/>Homozygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation, Missense--genetics<br/>Spasms, Infantile--genetics<br/>Ubiquitin-Activating Enzymes--genetics<br/>Exome Sequencing