Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations

Abstract Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas and prominent neurological involvement. It results from pathogenic variants in the TSC1 or TSC2 genes, leading to hyperactivation of the mTOR pathway and consequent dysregulation of cel...

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Bibliographic Details
Main Authors: Andrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, Edoardo Dammino, Maria Piccione, Francesco Calì, Renato Scifo, Michele Vecchio, Andrea Zonta, Maria Bonsignore, Maurizio Elia, Manuela Lo Bianco, Agata Polizzi, Martino Ruggieri
Format: Article
Language:English
Published: Nature Portfolio 2025-06-01
Series:Scientific Reports
Subjects:
TSC1
TSC2
Tuberous sclerosis complex
Seizures
Genotype/Phenotype
Online Access:https://doi.org/10.1038/s41598-025-04718-6
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