Tan, Chuan <br/><br/>
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.  [electronic resource] 

 -  Human molecular genetics  Sep 2015 
 - 5250-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddv245  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>3-Hydroxysteroid Dehydrogenases--genetics<br/>Adolescent<br/>Adult<br/>Age of Onset<br/>Aldo-Keto Reductase Family 1 Member C3<br/>Cadherins--genetics<br/>Child<br/>Child, Preschool<br/>Cluster Analysis<br/>Epilepsy--blood<br/>Female<br/>Fibroblasts--metabolism<br/>Gene Expression Profiling<br/>Gene Expression Regulation<br/>Gene Regulatory Networks<br/>Humans<br/>Hydroxyprostaglandin Dehydrogenases--genetics<br/>Infant<br/>Infant, Newborn<br/>Intellectual Disability--genetics<br/>Middle Aged<br/>Mutation<br/>Phenotype<br/>Pregnanolone--blood<br/>Protocadherins<br/>Reproducibility of Results<br/>Signal Transduction<br/>Young Adult