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Published on: May 16, 2019
Management of epilepsy in tuberous sclerosis complex
P Curatolo1, L D'Argenzio, C Cerminara
1Tor Vergata University, Department of Neurosciences, Pediatric Neurology Unit, Rome, Italy. curatolo@uniroma2.it
Tuberous sclerosis complex (TSC) is a genetic disorder causing brain lesions and seizures. Identifying children likely to become seizure-free after surgery may improve neurocognitive outcomes.
Area of Science:
- Neurogenetics
- Cellular Biology
- Epileptology
Background:
- Tuberous sclerosis complex (TSC) is an inherited disorder caused by mutations in TSC1 or TSC2 genes.
- The TSC1/TSC2 complex normally inhibits the mTOR pathway, regulating cell growth and proliferation.
- Brain lesions in TSC result from abnormal neuronal migration, differentiation, and proliferation, leading to seizures.
Purpose of the Study:
- To review the pathophysiology of TSC-related brain lesions and seizures.
- To discuss current and potential therapeutic strategies for TSC.
- To highlight advancements in identifying surgical candidates for seizure control.
Main Methods:
- Review of existing literature on TSC pathophysiology, clinical manifestations, and treatment.
- Analysis of evidence regarding the role of the mTOR pathway in epileptogenesis.
- Evaluation of multimodality techniques for predicting surgical outcomes in TSC.
Main Results:
- Seizures are a common and often drug-resistant symptom of TSC, impacting neurocognitive development.
- Vigabatrin is effective for infantile spasms associated with TSC.
- Multimodality imaging may identify TSC patients who will achieve seizure freedom post-surgery.
Conclusions:
- Understanding TSC epileptogenesis and the mTOR pathway is crucial for developing targeted therapies.
- Noninvasive identification of surgical candidates can improve seizure control and neurocognitive outcomes in TSC.
- Further research into novel therapeutic targets is warranted for Tuberous Sclerosis Complex.
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