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].
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