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Qualitative and quantitative evaluation for the heterogeneity of cortical tubers using structural imaging and diffusion-weighted imaging to predict the epileptogenicity in tuberous sclerosis complex patients
PurposeWe aimed to evaluate whether the heterogeneity of tuber imaging features, evaluated on the structural imaging and apparent diffusion...
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Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)
BackgroundTuberous Sclerosis Complex (TSC), a multi-system genetic disorder, is associated with a wide range of TSC-Associated Neuropsychiatric...
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Genetics of tuberous sclerosis complex: an update
PurposeTo review the current genetic aspects of tuberous sclerosis complex.
MethodsReview of the literature.
ResultsTuberous sclerosis complex...
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A population-based study to estimate survival and standardized mortality of tuberous sclerosis complex (TSC) in Taiwan
BackgroundTuberous sclerosis complex (TSC) is an autosomal dominant disease with systemic manifestations, which can cause significant mortality and...
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Sequential everolimus for angiomyolipoma associated with tuberous sclerosis complex: a prospective cohort study
BackgroundTo evaluate the efficacy, safety and health economics of sequential everolimus in treating angiomyolipoma (AML) associated with tuberous...
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Unmasking Antenatal Tuberous Sclerosis and 13 Years Retrospective Review of Its Diverse Presentations, Clinical-Imaging Follow Up and Learning the Latest Advances in Management
A 27 year old multigravida, presented with giant left ventricular cardiac rhabdomyoma at the 23rd gestational week. A previous bad obstetric history...
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Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report
IntroductionThe association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous...
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The characteristics and optimal treatment of urolithiasis associated with tuberous sclerosis complex
PurposeThe most common renal symptoms of tuberous sclerosis complex (TSC) are angiomyolipomas (AMLs) and renal cysts; however, some patients with TSC...
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Renal tumors in tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is a multisystem hereditary disorder characterized by the growth of benign tumors (hamartomas) in multiple organs,...
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Bilateral renal angiomyolipomas in tuberous sclerosis
BackgroundTuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign hamartomas in multiple organs of the body. Renal...
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Fibroma-like PEComa: a newly recognized soft tissue neoplasm in tuberous sclerosis patients—imaging features and review of literature
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms composed of spindled to epithelioid cells that co-express both...
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Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
BackgroundMany rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral...
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Multiple cardiac rhabdomyomas not associated with tuberous sclerosis in a dizygotic twins: a case report
BackgroundRhabdomyomas comprise the majority of cardiac tumors in fetuses and are found in association with tuberous sclerosis complex. More than 90%...
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Long-term administration of sirolimus does not affect the physical development of children with tuberous sclerosis complex
PurposeThere was no evidence whether the mammalian/mechanistic target of rapamycin pathway hyperactivation and long-term use of mTOR inhibitors have...
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Acute encephalopathy in children with tuberous sclerosis complex
ObjectiveWe examined the clinical manifestations of acute encephalopathy (AE) and identify risk factors for AE in children with tuberous sclerosis...
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Enhancing cyst-like lesions of the white matter in tuberous sclerosis complex: a novel neuroradiological finding
Tuberous sclerosis complex (TSC) is an autosomal dominant condition clinically presenting with heterogenous clinical features. Multiple...
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Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
BackgroundThe approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory...
