Journal
JOURNAL OF CHILD NEUROLOGY
Volume 33, Issue 1, Pages 55-63Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073817696814
Keywords
epilepsy; epileptogenesis; everolimus; malformation of cortical development; mTOR; rapamycin; seizures; tuberous sclerosis
Categories
Funding
- National Institutes of Health [T32 3857-77570C, R01 NS056872]
- Missouri State Department of Mental Health
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Malformations of cortical development represent a common cause of epileptic encephalopathies and drug-resistant epilepsy in children. As current treatments are often ineffective, new therapeutic targets are needed for epileptic encephalopathies associated with cortical malformations. The mechanistic/mammalian target of rapamycin (mTOR) pathway constitutes a signaling pathway that drives cellular and molecular mechanisms of epileptogenesis in a variety of focal cortical malformations. mTOR inhibitors prevent epilepsy and associated pathogenic mechanisms of epileptogenesis in mouse models of tuberous sclerosis complex and are currently in clinical trials for drug-resistant seizures in these patients. A recent explosion of genetic studies has linked mutations in various genes regulating the mTOR pathway to other cortical malformations, such as focal cortical dysplasia and hemimegalencephaly. Thus, mTOR inhibitors represent promising candidates as novel antiseizure and antiepileptogenic therapies for epilepsy associated with a spectrum of cortical malformations.
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