Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with <scp> <i>SCN8A</i> </scp> ‐related disorders

This EMR analysis represents the first integration of long-term developmental trajectories that encompasses both gain-of-function (GoF) and LoF subgroups. Patients carrying both types of variants cluster together at different ages in early childhood. Several sodium channel blockers were effective as monotherapies during seizure-freedom periods. Despite intermittent periods of reduced seizure activity, persistent developmental delays across all subgroups highlight the need for neurodevelopmental support beyond seizure control. EMR analysis reveals an evolving phenotypic landscape with distinct developmental outcomes for SCN8A-RD patients in different subgroups.