Palmer, Elizabeth E <br/><br/>
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.  [electronic resource] 

 -  Human molecular genetics  07 2016 
 - 3042-3054 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddw157  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Carrier Proteins--genetics<br/>Exons--genetics<br/>Female<br/>Genetic Predisposition to Disease<br/>Genotype<br/>Humans<br/>Infant<br/>Membrane Proteins--genetics<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Spasms, Infantile--genetics