Helbig, Katherine L <br/><br/>
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.  [electronic resource] 

 -  American journal of human genetics  11 2018 
 - 666-678 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2018.09.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Calcium Channels, R-Type--genetics<br/>Cation Transport Proteins--genetics<br/>Child<br/>Child, Preschool<br/>Contracture--genetics<br/>Dyskinesias--genetics<br/>Epilepsy--genetics<br/>Female<br/>Genetic Variation--genetics<br/>Humans<br/>Infant<br/>Male<br/>Megalencephaly--genetics<br/>Neurodevelopmental Disorders--genetics<br/>Spasms, Infantile--genetics