Syrbe, Steffen <br/><br/>
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.  [electronic resource] 

 -  Nature genetics  Apr 2015 
 - 393-399 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.3239  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Epilepsy--genetics<br/>Female<br/>Genetic Predisposition to Disease<br/>Humans<br/>Infant<br/>Kv1.2 Potassium Channel--genetics<br/>Male<br/>Mutation<br/>Pedigree<br/>Spasms, Infantile--genetics<br/>Young Adult