Alessia Romagnolo, Giulia Dematteis, Mirte Scheper, Mark J Luinenburg, Angelika Mühlebner, Wim Van Hecke, Marcello Manfredi, Veronica De Giorgis, Simone Reano, Nicoletta Filigheddu, Valeria Bortolotto, Laura Tapella, Jasper J Anink, Liesbeth François, Stefanie Dedeurwaerdere, James D Mills, Armando A Genazzani, Dmitry Lim, Eleonora Aronica
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain, and is often accompanied by epilepsy, neurodevelopmental comorbidities including intellectual disability and autism. A key hallmark of TSC is the hyperactivation of the mechanistic target of rapamycin (mTOR) signaling pathway, which induces alterations in cortical development and metabolic processes in astrocytes, among other cellular functions. These changes could modulate seizure susceptibility, contributing to the progression of epilepsy and its associated comorbidities...
February 28, 2024: Acta Neuropathologica