Jacy L. Wagnon

TL;DR: Analysis of the intermediate phenotype of functionally hemizygous Scn8aN1768D/− mice indicates that severity is increased by a double dose of mutant protein and reduced by the presence of wild-type protein, and the in vivo effects of hyperactive Nav1.6 and the response to therapeutic interventions.

TL;DR: Although SCN8A encephalopathy was identified only recently, there has been rapid progress in functional analysis and phenotypic classification and the focus is now shifting from identification of the underlying molecular cause to the development of strategies for drug screening and prioritized patient care.

TL;DR: The effect of pathogenic mutations on the structure of the channel protein, the rate of recurrent mutation, and changes in channel function underlying this devastating disorder are discussed.

TL;DR: The early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558) results from de novo missense mutations of SCN8A encoding the voltage‐gated sodium channel Nav1.6.

TL;DR: Reducing the abundance of the Scn8a transcript with an antisense oligonucleotide (ASO) would delay seizure onset and prolong survival in a mouse model of SCN8A encephalopathy.