Refractory Seizures of Infancy with SCN2A: A Case Review

Abstract

Neonatal epilepsy occurs for many reasons. Infants may present shortly after birth with seizure activity or seizures may occur later in the neonatal period. Seizures that are refractory to treatment can be difficult to manage and because of different presentations, there may be a delay in diagnosing the exact etiology. Prompt intervention is necessary and developing a plan of care can be done while exploring the etiology. There are several genetic mutations, including the SCN2A sodium ion channelopathy, that can result in a wide array of epileptic conditions, ranging from mild to severe. This case review focuses on diagnosis and management of SCN2A refractory seizures.