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Electrophoretic Delivery of γ-aminobutyric Acid GABA into Epileptic Focus Prevents Seizures in Mice
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Tuberous Sclerosis Complex: An updated in the treatment of epilepsy for early careers

Kette D Valente1, Leticia Brito Sampaio2, Silvia Vincentiis2

  • 1Clinic Hospital of the University of São Paulo Medical School (HCFMUSP), Brazil; LIM 21 - Faculty of Medicine University of São Paulo (FMUSP), Brazil.

Epilepsy & Behavior : E&B
|April 2, 2025
PubMed

Insights

Tuberous Sclerosis Complex (TSC) epilepsy affects many and is hard to treat. New research explores personalized therapies to improve seizure control and neurodevelopmental outcomes in TSC patients.

Area of Science:

  • Genetics and Neurology
  • Rare Disease Research

Background:

  • Tuberous Sclerosis Complex (TSC) is a genetic disorder affecting multiple systems, notably the brain.
  • TSC causes epilepsy in 85-90% of individuals, often starting in infancy and resisting standard treatments.
  • Pathogenic variants in TSC1/TSC2 genes activate the mTOR pathway, disrupting cell growth and leading to neurological issues.

Purpose of the Study:

  • To provide a comprehensive overview of TSC-associated epilepsy.
  • To discuss diagnostic criteria, pathophysiology, and current treatment strategies.
  • To highlight challenges and future directions in managing TSC-related neurological and neuropsychiatric disorders.

Main Methods:

  • Literature review of diagnostic criteria, pathophysiology, and therapeutic interventions for TSC-associated epilepsy.
  • Analysis of pharmacological (vigabatrin, cannabidiol, mTOR inhibitors) and non-pharmacological (ketogenic diet, surgery) treatments.
  • Examination of preventive strategies and their impact on seizure onset and neurodevelopmental outcomes.

Main Results:

  • Epilepsy in TSC is common, early-onset, and treatment-resistant.
  • Preventive strategies can delay seizures but have limited neurodevelopmental benefits.
  • Challenges include tuber heterogeneity, suboptimal seizure control, and underutilized neuropsychiatric care.

Conclusions:

  • Advances in biomarkers, precision medicine, and surgery offer personalized treatment options for TSC-associated epilepsy.
  • Future research should focus on early detection and integrated therapies for neurological and behavioral aspects of TSC.
  • Improving quality of life and developmental outcomes requires addressing current therapeutic and care gaps.
Keywords:
Autism spectrum disorderEpilepsy surgeryEpileptic spasmsNeurodevelopmentTuberous sclerosis complexmTOR inhibitor therapy

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