Article
Longitudinal analyses of electronic medical records reveal dynamic developmental trajectories for patients with SCN8A-related disorders.
Epilepsia - 1 Apr 2026
Smelser Kiran, Laird Taryn, Hack Joshua B, Tanzer Elyse, Stewart Ian, Watkins Joseph C, Hammer Michael F
Abstract excerpt
OBJECTIVES: Despite providing significant insights into the phenotypic spectrum and genotype-phenotype correlations in SCN8A-related disorders (SCN8A-RD), cohort and registry-based studies typically lack sufficient longitudinal data to characterize disease progression or treatment-response trajectories. Here we utilize data from electronic medical records (EMRs) of 80 patients as a complementary approach to...
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