Wagnon, Jacy L <br/><br/>
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.  [electronic resource] 

 -  Human mutation  07 2018 
 - 965-969 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>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.23547  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Epilepsy--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Intellectual Disability--genetics<br/>Loss of Function Mutation--genetics<br/>Male<br/>Middle Aged<br/>Mutation<br/>Myoclonus--genetics<br/>NAV1.6 Voltage-Gated Sodium Channel--genetics<br/>Pedigree<br/>Seizures--genetics