Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study

SCN2A disease spans a broad clinical spectrum from self-limited (familial) neonatal-infantile epilepsy to severe developmental and epileptic encephalopathies. Systematic characterization of the spectrum of neuroradiologic abnormalities in SCN2A disease has not been performed. This study aimed to delineate MRI findings across SCN2A phenotypes, their frequency and evolution, and their relevance for prognosis and clinical trials.