Peter B. Crino

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Pediatric Neurology · 2021-07-24 · 697 citations

Tuberous sclerosis complex

2025-04-01

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant or sporadic, multisystem disorder affecting predominantly the brain, lung, heart, skin, and kidney. TSC results from loss-of-function mutations in the TSC1 or TSC2 genes which encode proteins that are direct modulators of the mechanistic target of rapamycin (mTOR) pathway. The neurological and neuropsychiatric features of TSC include epilepsy in 80% of affected individuals, autism spectrum disorder in 50%, and intellectual disabi…

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

UNC Libraries · 2024-07-17

Post-zygotically acquired genetic variants, or somatic variants, that arise during cortical development have emerged as important causes of focal epilepsies, particularly those due to malformations of cortical development. Pathogenic somatic variants have been identified in many genes within the PI3K-AKT-mTOR-signalling pathway in individuals with hemimegalencephaly and focal cortical dysplasia (type II), and more recently in SLC35A2 in individuals with focal cortical dysplasia (type I) or non-d…