Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
H Northrup, ME Aronow, EM Bebin, J Bissler… - Pediatric Neurology, 2021 - Elsevier
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic …
EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …
EA Thiele, EM Bebin, H Bhathal, FE Jansen… - JAMA …, 2021 - jamanetwork.com
Importance Efficacy of cannabidiol has been demonstrated in seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have been established in …
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …
Background Estimating the prevalence of autosomal dominant polycystic kidney disease (ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …
DA Krueger, H Northrup, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and …
D Sturm, SM Pfister, DTW Jones - Journal of Clinical Oncology, 2017 - ascopubs.org
Gliomas are the most common CNS tumors in children and adolescents, and they show an extremely broad range of clinical behavior. The majority of pediatric gliomas present as …