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]
]. 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.Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to Seizure - European Journal of EpilepsyAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- 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
Article info
Publication history
Published online: February 11, 2023
Accepted:
February 10,
2023
Received in revised form:
February 7,
2023
Received:
December 21,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
