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 …
with developmental delay, cerebral palsy or seizures. The neurological outcome is …
Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management
Lymphangioleiomyomatosis (LAM) is a slowly progressive, low-grade, metastasising
neoplasm of women, characterised by infiltration of the lung parenchyma with abnormal …
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
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease
affecting multiple body systems with wide variability in presentation. In 2013, Pediatric …
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 …
and is often resistant to medication. Recently, the concept of preventive antiepileptic …
Tuberous sclerosis complex
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 …
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 …
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 …
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 …
(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 …
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 …
extremely broad range of clinical behavior. The majority of pediatric gliomas present as …