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 …
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 …
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 …
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
Summary Background Patients with Lennox-Gastaut syndrome, a rare, severe form of
epileptic encephalopathy, are frequently treatment resistant to available medications. No …
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 …
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
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 …
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 …
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 …
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 …
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 …
little is known about the natural history of epilepsy in this genetic disease. Methods: A …