Work

Insights into Tuberous Sclerosis Complex : From Genes to Clinics

Year: 2025

Type: article

Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role. Long-term disease monitoring and appropriate interventions by multidisciplinary experts, including the use of mTOR inhibitors and promising therapeutic agents based on disease pathomechanisms, are essential for effective TSC management and improved clinical outcomes.

Source: Journal of Korean Neurosurgical Society

DOI: 10.3340/jkns.2025.0035

Author: Soo Yeon Kim

Institutions: Seoul National University, Seoul National University Hospital, Seoul National University Children's Hospital

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $300