Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …

Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations

P Curatolo, R Nabbout, L Lagae, E Aronica… - European Journal of …, 2018 - Elsevier
Patients with tuberous sclerosis complex (TSC) are at very high risk for developing epilepsy,
and the majority experience seizure onset during the first year of life. Early targeted …

[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 …

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 …

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

R Nabbout, E Belousova, MP Benedik, T Carter… - Epilepsia …, 2019 - Wiley Online Library
Objective To present the baseline data of the international TuberOus SC lerosis registry to
increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies …

Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: an open‐label extension trial

EA Thiele, EM Bebin, F Filloux, P Kwan, R Loftus… - …, 2022 - Wiley Online Library
Objective To evaluate the long‐term safety and efficacy of add‐on cannabidiol (CBD) in
patients with seizures associated with tuberous sclerosis complex (TSC) in the open‐label …

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

PJ De Vries, E Belousova, MP Benedik, T Carter… - Orphanet journal of rare …, 2018 - Springer
Background Most evidence for TSC-associated neuropsychiatric disorders (TAND) to date
have come from small studies and case reports, and very little is known about TAND in …

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

D Ebrahimi-Fakhari, LL Mann, M Poryo, N Graf… - Orphanet Journal of …, 2018 - Springer
Abstract Background Tuberous Sclerosis Complex (TSC) is a rare multisystem disorder. In
2012 diagnostic criteria for TSC were revised. However, data on the incidence of TSC are …

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

JP Zöllner, DN Franz, C Hertzberg, R Nabbout… - Orphanet journal of rare …, 2020 - Springer
Objective This review will summarize current knowledge on the burden of illness (BOI) in
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …

[HTML][HTML] Tuberous sclerosis complex

H Northrup, MK Koenig, DA Pearson, KS Au - 2021 - europepmc.org
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …