Estacion, Mark <br/><br/>
A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.  [electronic resource] 

 -  Neurobiology of disease  Sep 2014 
 - 117-23 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1095-953X 
<br/><br/><label>Standard No.: </label>10.1016/j.nbd.2014.05.017  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Action Potentials--physiology<br/>Age of Onset<br/>Animals<br/>DNA Mutational Analysis<br/>Epilepsy--genetics<br/>HEK293 Cells<br/>Hippocampus--physiopathology<br/>Humans<br/>Membrane Potentials--physiology<br/>Mutation, Missense<br/>NAV1.6 Voltage-Gated Sodium Channel--genetics<br/>Neurons--physiology<br/>Patch-Clamp Techniques<br/>Pyramidal Cells--physiopathology<br/>Rats<br/>Rats, Sprague-Dawley<br/>Sequence Homology, Amino Acid<br/>Transfection