SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis

Abstract

The phenotypic spectrum of <i>SCN2A</i>-related epilepsy was broad, ranging from benign epilepsy in neonate and infancy to severe epileptic encephalopathy. Oxcarbazepine and valproate were the most effective drugs in epilepsy patients with <i>SCN2A</i> variants. Sodium channel blockers often worsen seizures in patients with seizure onset beyond 1 year of age. Abnormal brain MRI findings and <i>de novo</i> variations were often related to poor prognosis. Most <i>SCN2A</i> variants located in transmembrane regions were related to patients with developmental delay.