Veeramah, Krishna R <br/><br/>
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.  [electronic resource] 

 -  American journal of human genetics  Mar 2012 
 - 502-10 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2012.01.006  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Death, Sudden--etiology<br/>Epilepsy--complications<br/>Exons<br/>Female<br/>Gene Frequency--genetics<br/>Genome-Wide Association Study--methods<br/>Genomic Structural Variation<br/>Heterozygote<br/>Humans<br/>Male<br/>Mutation, Missense<br/>NAV1.6 Voltage-Gated Sodium Channel<br/>Nerve Tissue Proteins--genetics<br/>Neurons--metabolism<br/>Phenotype<br/>Sequence Analysis, DNA--methods<br/>Sodium Channels--genetics