Year: 2026
Type: article
Abstract: Introduction: Tuberous Sclerosis Complex (TSC) is a rare genetic disorder associated with mutations in the TSC1 or TSC2 genes, which lead to hyperactivation of the mTOR signaling pathway. These genes encode proteins that form an inhibitory complex for RHEB (Ras homolog enriched in brain); therefore, hyperactivation of mTORC1 (mechanistic target of rapamycin complex 1) constitutes a fundamental feature of the disease (1,2). mTORC1 signaling plays a central role in the cellular and molecular mechanisms underlying epileptogenesis and developmental epileptic encephalopathy. Conclusion: Advances in understanding the mechanisms of epileptogenesis have led to the emergence of new concepts in the management of epilepsy associated with TSC. A predictive and preventive approach may help both to delay seizure onset and to improve seizure response. Keywords: Tuberous sclerosis complex, epilepsy, mTORC1
Author: Senem Ayça
Institution: Manisa Celal Bayar University
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W7140285432