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 …

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] Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind …

JA French, JA Lawson, Z Yapici, H Ikeda, T Polster… - The Lancet, 2016 - thelancet.com
Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used
for various benign tumours associated with tuberous sclerosis complex. We assessed the …

Long-term use of everolimus in patients with tuberous sclerosis complex: final results from the EXIST-1 study

DN Franz, E Belousova, S Sparagana, EM Bebin… - PloS one, 2016 - journals.plos.org
Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has
demonstrated efficacy in treating subependymal giant cell astrocytomas (SEGAs) and other …

Mechanistic target of rapamycin (mTOR) in tuberous sclerosis complex-associated epilepsy

P Curatolo - Pediatric neurology, 2015 - Elsevier
Background Tuberous sclerosis complex is a multiorgan disease resulting from a mutation of
one of two TSC genes. The two gene products form a functional complex that regulates the …

Insights into molecular therapy of glioma: current challenges and next generation blueprint

Y Rajesh, I Pal, P Banik, S Chakraborty… - Acta pharmacologica …, 2017 - nature.com
Glioma accounts for the majority of human brain tumors. With prevailing treatment regimens,
the patients have poor survival rates. In spite of current development in mainstream glioma …

Novel therapeutic approaches for disease-modification of epileptogenesis for curing epilepsy

BL Clossen, DS Reddy - Biochimica et Biophysica Acta (BBA)-Molecular …, 2017 - Elsevier
This article describes the recent advances in epileptogenesis and novel therapeutic
approaches for the prevention of epilepsy, with a special emphasis on the pharmacological …

mTORdependent cell proliferation in the brain

L Ryskalin, G Lazzeri, M Flaibani… - BioMed research …, 2017 - Wiley Online Library
The mammalian Target of Rapamycin (mTOR) is a molecular complex equipped with kinase
activity which controls cell viability being key in the PI3K/PTEN/Akt pathway. mTOR acts by …

The role of mTOR inhibitors in the treatment of patients with tuberous sclerosis complex: evidence-based and expert opinions

P Curatolo, M Bjørnvold, PE Dill, JC Ferreira, M Feucht… - Drugs, 2016 - Springer
Tuberous sclerosis complex (TSC) is a genetic disorder arising from mutations in the TSC1
or TSC2 genes. The resulting over-activation of the mammalian target of rapamycin (mTOR) …

Efficacy and safety of Everolimus in children with TSC-associated epilepsy–Pilot data from an open single-center prospective study

S Samueli, K Abraham, A Dressler, G Gröppel… - Orphanet journal of rare …, 2016 - Springer
Background Epilepsy occurs in up to 90% of all individuals with tuberous sclerosis complex
(TSC). In 67% disease onset is during childhood. In≥ 50% seizures are refractory to …