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 …

Neurologic manifestations of Angelman syndrome

RL Thibert, AM Larson, DT Hsieh, AR Raby… - Pediatric neurology, 2013 - Elsevier
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …

Epilepsy and cannabidiol: a guide to treatment

A Arzimanoglou, U Brandl, JH Cross… - Epileptic …, 2020 - Wiley Online Library
The growing interest in cannabidiol (CBD), specifically a pure form of CBD, as a treatment
for epilepsy, among other conditions, is reflected in recent changes in legislation in some …

Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial

EA Thiele, ED Marsh, JA French… - The Lancet, 2018 - thelancet.com
Summary Background Patients with Lennox-Gastaut syndrome, a rare, severe form of
epileptic encephalopathy, are frequently treatment resistant to available medications. No …

[HTML][HTML] Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome

O Devinsky, JH Cross, L Laux, E Marsh… - … England Journal of …, 2017 - Mass Medical Soc
Background The Dravet syndrome is a complex childhood epilepsy disorder that is
associated with drug-resistant seizures and a high mortality rate. We studied cannabidiol for …

[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 …

Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group

EH Kossoff, BA Zupec‐Kania, PE Amark… - …, 2009 - Wiley Online Library
The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for
intractable childhood epilepsy. The KD is provided differently throughout the world, with …

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo …

DN Franz, E Belousova, S Sparagana, EM Bebin… - The Lancet, 2013 - thelancet.com
Background Tuberous sclerosis complex is a genetic disorder leading to constitutive
activation of mammalian target of rapamycin (mTOR) and growth of benign tumours in …

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group

EH Kossoff, BA Zupec‐Kania, S Auvin… - Epilepsia …, 2018 - Wiley Online Library
Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments
for intractable childhood epilepsy. For many years KDTs were implemented differently …

The natural history of epilepsy in tuberous sclerosis complex

CJ Chu‐Shore, P Major, S Camposano… - …, 2010 - Wiley Online Library
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC),
little is known about the natural history of epilepsy in this genetic disease. Methods: A …