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Precision Therapy for Epilepsy Related to Brain Malformations
Alissa M D'Gama1,2,3,4, Annapurna Poduri5,6,7
1Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Summary
Malformations of cortical development (MCDs) cause developmental delays and epilepsy. Targeted therapies, like mTOR inhibitors for tuberous sclerosis complex, show promise for treating these conditions.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Malformations of cortical development (MCDs) are common causes of developmental delay and epilepsy, particularly in children.
- Current treatments for refractory epilepsy include antiseizure medications and surgery.
- Next-generation sequencing has advanced the understanding of MCD genetic causes.
Purpose of the Study:
- To review the genetic etiologies of MCDs.
- To highlight emerging precision therapies for focal MCDs.
- To discuss the role of the mTOR pathway in MCDs and its therapeutic implications.
Main Methods:
- Literature review of genetic studies in MCDs.
- Analysis of the role of the mammalian target of rapamycin (mTOR) pathway in MCDs.
- Examination of current and emerging targeted therapies for MCD-related epilepsy.
Main Results:
- Mutations activating the mTOR pathway are a common cause of MCDs, including tuberous sclerosis complex (TSC), hemimegalencephaly (HME), and focal cortical dysplasia (FCD).
- Everolimus, an mTOR inhibitor, is approved for treating refractory focal seizures in TSC patients.
- Early clinical studies suggest potential for precision therapies in FCD and HME.
Conclusions:
- The mTOR pathway is a key target for precision therapies in MCDs.
- Targeted therapies offer a promising future for treating epilepsy associated with MCDs.
- Continued research is expected to yield significant advancements in precision medicine for MCDs in the next decade.
Keywords:
EpilepsyMalformations of cortical development (MCDs)Mammalian target of rapamycin (mTOR)Precision therapySomatic mosaicismMore Related Videos
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