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 [
]. 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 [
- Honda R
- Kaido T
- Sugai K
Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy.
Epilepsy Behav. 2013; 29: 30-35
]. We report an infant with HME and super-refractory status epilepticus (SRSE) secondary to NPRL3 gene mutation who received adjuvant sirolimus therapy without achieving seizure control. Unexpectedly, follow-up neuroimaging showed marked global brain atrophy precluding surgical intervention.
- Vawter-Lee M
- Franz DN
- Fuller CE
Clinical letter: a case report of targeted therapy with sirolimus for NPRL3 epilepsy.
Seizure. 2019; 73: 43-45
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- Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy.Epilepsy Behav. 2013; 29: 30-35
- Clinical letter: a case report of targeted therapy with sirolimus for NPRL3 epilepsy.Seizure. 2019; 73: 43-45
- Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.Am J Med Genet A. 2021; 185: 2126-2130
- Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.Epilepsia. 2016; 57: 994-1003
Published online: February 11, 2023
Accepted: February 10, 2023
Received in revised form: February 7, 2023
Received: December 21, 2022
Publication stageIn Press Journal Pre-Proof
© 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.