Joseph C. Watkins

Molecular context of pathogenic variants is associated with phenotype and treatment response in SCN8A-related disorders

Objectives Genotype–phenotype studies in rare epilepsies typically relate a pathogenic DNA sequence change to clinical outcome, without considering the broader molecular context of a given variant. Here we ask whether clinical heterogeneity in SCN8A-related disorders (SCN8A-RD) is patterned along molecular dimensions t...