SCN3A-Related Neurodevelopmental Disorder: Clinical Characteristics and Seizure Manifestations

SCN3A-related neurodevelopmental disorder is a rare genetic condition presenting with developmental delays and seizures of varying severity, ranging from isolated speech delay to severe developmental and epileptic encephalopathy (DEE). Seizures typically begin in infancy and are often drug-resistant, particularly in cases with cortical malformations, with additional complications including hypotonia, movement disorders, and potential autonomic dysfunction.