Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex

Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex

Summary: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2, leading to mTOR pathway dysregulation and a spectrum of systemic and neurological manifestations. Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder frequently a...

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Bibliographic Details
Main Authors: Nicola Specchio, Valentina Di Micco, Mirte Scheper, Eleonora Aronica, Paolo Curatolo
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:EBioMedicine
Subjects:
Tuberous sclerosis complex (TSC)
mTOR pathway dysregulation
Developmental and epileptic encephalopathy (DEE)
Presymptomatic intervention
Biomarkers and precision medicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396425001847
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