A5061158845- Tuberous Sclerosis Complex Research
- Polyomavirus and related diseases
- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Tumors and Oncological Cases
- Histiocytic Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Medical Imaging and Pathology Studies
- Vascular Tumors and Angiosarcomas
- Nonlinear Dynamics and Pattern Formation
- Signaling Pathways in Disease
- Hedgehog Signaling Pathway Studies
- Health, Work, and Social Studies in Poland
- Soft tissue tumor case studies
- Amino Acid Enzymes and Metabolism
- Maternal and Neonatal Healthcare
- Biochemical and Molecular Research
- Glycogen Storage Diseases and Myoclonus
- Toxoplasma gondii Research Studies
- Ethics and Legal Issues in Pediatric Healthcare
- Antibiotics Pharmacokinetics and Efficacy
- Infectious Encephalopathies and Encephalitis
- Fractal and DNA sequence analysis
Children's Memorial Health Institute
2013-2024
Stichting Epilepsie Instellingen Nederland
2021
Lurie Children's Hospital
2001
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...
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...
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...
Purpose: The aim of the study was to reveal relationships between tuber count brain found in patients with tuberous sclerosis complex (TSC) and their cognitive outcome. Methods: A single-center, retrospective analysis performed documented TSC seen from 1988 2010 at Children's Memorial Health Institute, Warsaw, Poland. Key Findings: Sixty-two were analyzed, there a significant correlation younger age first seizure developmental delay. who did not develop seizures had normal development,...
Summary Objective To study the association between timing and characteristics of first electroencephalography (EEG) with epileptiform discharges (ED‐EEG) epilepsy neurodevelopment at 24 months in infants tuberous sclerosis complex (TSC). Methods Patients enrolled prospective Epileptogenesis a genetic model – Tuberous (EPISTOP) trial, had serial EEG monitoring until age months. The ED‐EEG were studied relation to clinical outcome. Epilepsy‐related outcomes analyzed separately conventionally...
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with high risk of early-onset epilepsy and prevalence neurodevelopmental comorbidities, including intellectual disability autism spectrum (ASD). Therefore, TSC an interesting disease model to investigate early biomarkers comorbidities when interventions are favourable. We investigated whether EEG characteristics can be used predict neurodevelopment in infants TSC. The first recorded 64 TSC, enrolled the international...
To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children tuberous sclerosis complex (TSC) to improve prenatal counseling.This retrospective cohort study was performed a collaboration between centers the EPISTOP consortium. We included definite TSC, MRIs, available follow-up data age. A pediatric neuroradiologist masked patient's clinical evaluated all MRIs. MRIs were categorized for each 10 lobes as...
<h3>Background and Objectives</h3> Multiple factors have been found to contribute the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution EEG abnormalities, <i>TSC</i> gene variant, MRI characteristics. The aim this prospective multicenter study was identify early biomarkers TSC aged <6 months before seizure onset, associate these neurodevelopmental outcomes at 2 years age. part EPISTOP project. <h3>Methods</h3> We evaluated brain MRIs performed...
Cardiac rhabdomyoma (CR) is the most common heart tumor in children and usually associated with tuberous sclerosis complex (TSC). Tuberous a genetic disorder caused by mutation either of 2 genes (TSC1 or TSC2) characterized formation hamartomas multiple organs. The TSC proteins, hamartin tuberin, antagonize mammalian target rapamycin (mTOR) signaling pathway, thus regulating cell growth proliferation. Recently, some trials treating mTOR inhibitor have been published; however, impact such...
Abstract We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), which 93 infants TSC were followed from birth to age 2 years, seeking biomarkers development. Vigabatrin had profound effects on many metabolites, increasing serum deoxycytidine monophosphate (dCMP) levels 52-fold. Most proteins and blood RNA species showed significant change age....
We report a child in whom multiple cardiac rhabdomyomas were identified on routine fetal ultrasonography. Molecular genetic studies the TSC2 gene missense mutation (E36; 4672 G>A, 1558 E>K TSC2). Both general and neurodevelopment of patient have been normal. When last examined at age 6 years, he had no skin manifestations tuberous sclerosis complex. Computed tomography brain revealed two periventricular calcifications consistent with molecular diagnosis. This is first molecularly...
Background Epilepsy develops in 70–90% of children with Tuberous Sclerosis Complex (TSC) and is often resistant to medication. Treatment mTOR pathway inhibitors an important therapeutic option drug-resistant epilepsy associated TSC. Our study evaluated the antiepileptic effect rapamycin pediatric population patients diagnosed Methods This single center, open-label safety anti-epileptic efficacy 12 months treatment 32 aged from 11 14 years TSC- epilepsy. Results After first 6 treatment,...
Abstract Objective Previous retrospective studies have reported vigabatrin‐associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort assessed to what extent VABAM‐related symptoms were TSC infants. Methods The Dutch Registry EPISTOP provided prospective data from 80 patients treated with (VGB) before age of...