Definitions and classification of malformations of cortical development: practical guidelines

M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management

C McCarthy, N Gupta, SR Johnson, JY Jane… - The Lancet …, 2021 - thelancet.com
Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …

[HTML][HTML] Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

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 …

Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial

K Kotulska, DJ Kwiatkowski, P Curatolo… - Annals of …, 2021 - Wiley Online Library
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 …

Tuberous sclerosis complex

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 …

Add-on cannabidiol treatment for drug-resistant seizures in tuberous sclerosis complex: a placebo-controlled randomized clinical trial

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 …

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
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 …

Prevalence estimates of polycystic kidney and liver disease by population sequencing

MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …

[HTML][HTML] Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

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 …

Pediatric gliomas: current concepts on diagnosis, biology, and clinical management

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 …