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Current concepts on epilepsy management in tuberous sclerosis complex

Maria Paola Canevini1, Katarzyna Kotulska-Jozwiak2, Paolo Curatolo3

  • 1Child Neuropsychiatry Unit - Epilepsy Center, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|September 27, 2018
PubMed

Insights

Tuberous sclerosis complex (TSC), a genetic disorder, frequently causes early-onset epilepsy. Early diagnosis and intervention before seizures can mitigate cognitive decline and neuropsychiatric issues in TSC patients.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder affecting 1 in 6,000 individuals.
  • Epilepsy is a common manifestation, impacting 90% of TSC patients, often within the first two years of life.
  • Early-onset epilepsy (within 12 months) correlates with increased risks of cognitive decline and neuropsychiatric conditions like autism.

Purpose of the Study:

  • To review the current understanding of epileptogenesis in TSC.
  • To present expert recommendations for managing epilepsy in TSC.
  • To highlight the importance of early diagnosis and intervention.

Main Methods:

  • Review of current literature on TSC and epileptogenesis.
  • Synthesis of recommendations from American and European epilepsy experts.
  • Discussion of the role of EEG monitoring and early intervention.

Main Results:

  • Epileptogenesis in TSC is a critical factor leading to significant neurological comorbidities.
  • Early diagnosis of TSC enables proactive EEG monitoring before clinical seizures.
  • Intervention prior to seizure onset offers a window to potentially alter epileptogenesis.

Conclusions:

  • Early diagnosis and intervention are crucial for managing epilepsy in TSC.
  • Monitoring EEG in infants with TSC before seizure onset is recommended.
  • Expert consensus provides a framework for optimizing care and outcomes in TSC-related epilepsy.

Keywords:
epilepsyseizurestuberous sclerosis complex

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