A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation

Hemimegalencephaly (HME) is a congenital malformation of cortical development (MCD) commonly associated with early-onset refractory epilepsy. Early functional hemispherotomy is offered to eligible patients with the goal to provide seizure control and improve neurologic outcomes [1]. Mutations in the GATOR1 protein complex, including the nitrogen permease regulator 3-like protein (NPRL3) gene, cause hyperactivation of the mammalian target of rapamycin (mTOR) signaling pathway, and represent a potential therapeutic target (e.g., mTOR inhibitors) for HME-related epilepsy [2].