Article

Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations

2025-04-14

Abstract excerpt

<title>Abstract</title> <p>Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas in multiple organs and significant neurological involvement. TSC is caused by pathogenic variants in <italic>TSC1</italic> or <italic>TSC2</italic> genes, leading to hyperactivation of the mTOR pathway and consequent dysregulation of cell growth. These tumor suppressor genes encode...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 09273228-76dd-5594-953f-e53f4971ce1a
DOI: 10.21203/rs.3.rs-5804009/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological ManifestationsDOI 10.21203/rs.3.rs-5804009/v1Read

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestationsSemantic proximity Read

Updated Genotype-Phenotype Correlations in TSC.Semantic proximity Read

Genotypic and Phenotypic Analysis of Korean Patients with Tuberous SclerosisSemantic proximity Read

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex.Semantic proximity Read

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read

Tuberous sclerosis with a novel TSC1 variant: a case reportSemantic proximity Read

Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.Semantic proximity Read

Genotype and cognitive phenotype of patients with tuberous sclerosis complex.Semantic proximity Read

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort StudySemantic proximity Read

Tuberous sclerosis complex.Semantic proximity Read

Brain lesions in tuberous sclerosis complex. Review.Semantic proximity Read

Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex.Semantic proximity Read