IndraLab

Statements


| 2

reach
"The identification of this new gain-of-function mutation of Na v 1.6 supports the inclusion of SCN8A as a causative gene in infantile epilepsy, demonstrates a novel mechanism for hyperactivity of Na v 1.6, and further expands the role of de novo mutations in severe epilepsy."

reach
"This increase in the frequency of SWDs during postnatal development coincides with previously described developmental increases in Na v 1.6 levels (protein product of Scn8a)."