{Reference Type}: Case Reports
{Title}: SCN8A mutation in a child presenting with seizures and developmental delays.
{Author}: Malcolmson J;Kleyner R;Tegay D;Adams W;Ward K;Coppinger J;Nelson L;Meisler MH;Wang K;Robison R;Lyon GJ;
{Journal}: Cold Spring Harb Mol Case Stud
{Volume}: 2
{Issue}: 6
{Year}: 11 2016
暂无{DOI}: 10.1101/mcs.a001073
{Abstract}: The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.