A5028077452- Tuberous Sclerosis Complex Research
- Polyomavirus and related diseases
- Histiocytic Disorders and Treatments
- Nerve injury and regeneration
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Glioma Diagnosis and Treatment
- Tumors and Oncological Cases
- PI3K/AKT/mTOR signaling in cancer
- Neurogenetic and Muscular Disorders Research
- Epilepsy research and treatment
- RNA modifications and cancer
- Pain Mechanisms and Treatments
- Multiple Sclerosis Research Studies
- Vascular Tumors and Angiosarcomas
- Congenital Anomalies and Fetal Surgery
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Chromatin Remodeling and Cancer
- Neurofibromatosis and Schwannoma Cases
- Neurogenesis and neuroplasticity mechanisms
- Neuroscience and Neuropharmacology Research
- Hedgehog Signaling Pathway Studies
- Botulinum Toxin and Related Neurological Disorders
- Nerve Injury and Rehabilitation
Children's Memorial Health Institute
2016-2025
Instytut Matki i Dziecka
2011-2024
John Wiley & Sons (United States)
2024
Hudson Institute
2024
Stichting Epilepsie Instellingen Nederland
2021
European Organisation for Rare Diseases
2020
Medical University of Warsaw
2020
Medical University Plovdiv
2019
University of Rome Tor Vergata
2017
Medical University of Silesia
2003-2011
Epilepsy appears in 70-80% of patients with tuberous sclerosis complex, most commonly the first year age. Early manifestation epilepsy is associated drug-resistant and mental retardation more than 80% patients. Clinical epileptic seizures are preceded by deterioration EEG recording thus infants high risk can be identified.We hypothesized that preventative antiepileptic treatment multifocal activity on might lower incidence retardation.Forty-five early diagnosis complex were included...
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant medication. Recently, the concept preventive antiepileptic treatment modify natural history epilepsy has been proposed. EPISTOP was a clinical trial designed compare versus conventional TSC infants. Methods In this multicenter study, 94 infants without seizure were followed monthly video electroencephalography (EEG), received vigabatrin either as treatment, started after first...
<h3>Importance</h3> Efficacy of cannabidiol has been demonstrated in seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have established conditions primarily focal seizures, such as tuberous sclerosis complex (TSC). <h3>Objective</h3> To evaluate efficacy safety 25-mg/kg/day 50-mg/kg/day dosages vs placebo against TSC. <h3>Design, Setting, Participants</h3> This double-blind, placebo-controlled randomized clinical trial (GWPCARE6) enrolled patients between...
In the central nervous system, tuberous sclerosis complex (TSC) is characterized by a range of lesions including cortical tubers, white matter heterotopias, subependymal nodules, and giant cell astrocytomas (SEGAs). Recent studies have implicated an important role for TSC genes TSC1 TSC2, in signaling pathway involving mammalian target rapamycin (mTOR) kinase. We performed immunohistochemical genetic analyses on SEGAs from 7 patients, 4 with mutations TSC1, 3 TSC2. SEGA cells show high...
Gliomas attract brain-resident (microglia) and peripheral macrophages reprogram these cells into immunosuppressive, pro-invasive cells. M-CSF (macrophage colony-stimulating factor, encoded by the CSF1 gene) has been implicated in control of recruitment polarization several cancers. We found that murine GL261 glioma overexpress GM-CSF (granulocyte-macrophage factor CSF2 but not when compared to normal astrocytes. Knockdown strongly reduced microglia-dependent invasion organotypical brain...
Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur several organs. Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous complex. Our aim for this study was characterize incidence, progression, and clinical consequences complex-associated rhabdomyomas a large cohort patients TSC1 TSC2 genotypes.Patients (154) were evaluated, including assessment, electrocardiography, echocardiography. Mutations or...
Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated the development benign tumors in several organs. It also characterized by high rates neurological neuropsychiatric abnormalities, including epilepsy affecting 70–90% patients being one major risk factors intellectual disability. The first seizures TSC appear usually between 4th 6th months life. Recent studies have shown beneficial role preventative antiepileptic treatment patients,...
BackgroudDrug-resistant epilepsy is the main risk factor for future intellectual disability in patients with tuberous sclerosis complex. Clinical epileptic seizures are often preceded by electroencephalographic changes, which provide an opportunity preventive treatment. We evaluated neuropsychologic and outcomes at school age children complex who received antiepileptic treatment infancy.MethodsWe performed a prospective, nonrandomized clinical trial 14 infants diagnosed whom serial...
// Anika Bongaarts 1, * , Krinio Giannikou 2, Roy J. Reinten 1 Jasper Anink James D. Mills Floor E. Jansen 3 Wim G.M. Spliet 4 Willfred F.A. den Dunnen 5 Roland Coras 6 Ingmar Blümcke Werner Paulus 7 Theresa Scholl 8 Martha Feucht Katarzyna Kotulska 9 Sergiusz Jozwiak 10 Anna Maria Buccoliero 11 Chiara Caporalini Flavio Giordano 12 Lorenzo Genitori Figen Söylemezoğlu 13 José Pimentel 14 Mark Nellist 15 Antoinette Y.N. Schouten-van Meeteren 16 Anwesha Nag 17 Angelika Mühlebner David...
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed identify the early clinical markers of ASD and/or developmental delay (DD) an diagnosis TSC. We prospectively evaluated 82 TSC (6-24 months age), using a detailed neuropsychological assessment (Bayley Scales Infant Development-BSID, and Diagnostic Observation Schedule-ADOS), context EPISTOP...
Mechanistic target of rapamycin (mTOR) inhibitors sirolimus and everolimus are an effective therapy for subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, lymphangioleiomyomatosis associated with tuberous sclerosis complex (TSC). Everolimus was recently approved in the EU USA treatment refractory focal-onset seizures. Despite frequent use mTOR inhibitors, there only a few studies on their effect epilepsy control children under 2 years age. This study aims to...