Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features

BACKGROUND AND OBJECTIVES: Pathogenic variants at the voltage-gated sodium channel gene, SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine whether patients carry gain-of-function (GOF) or loss-of-function (LOF) variants to...

Descripción completa

Detalles Bibliográficos
Autores principales: Hack, Joshua B., Horning, Kyle, Juroske Short, Denise M., Schreiber, John M., Watkins, Joseph C., Hammer, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
RESEARCH Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160958/
https://www.ncbi.nlm.nih.gov/pubmed/37152443
http://dx.doi.org/10.1212/NXG.0000000000200060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160958/
https://www.ncbi.nlm.nih.gov/pubmed/37152443
http://dx.doi.org/10.1212/NXG.0000000000200060

Ejemplares similares