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 …
Management of epilepsy associated with tuberous sclerosis complex: updated clinical recommendations
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 …
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 …
Background Everolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used
for various benign tumours associated with tuberous sclerosis complex. We assessed the …
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 …
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 …
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
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 …
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 …
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 …
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) …
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 …
(TSC). In 67% disease onset is during childhood. In≥ 50% seizures are refractory to …