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External auditory canal obstruction due to tuberous sclerosis complex angiofibromas: a case report
BackgroundTuberous sclerosis complex (TSC), an autosomal dominant genetic disorder and auricula and external auditory canal (EAC) involvement, is...
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Amelioration of the brain structural connectivity is accompanied with changes of gut microbiota in a tuberous sclerosis complex mouse model
Tuberous sclerosis complex (TSC) is a genetic disease that causes benign tumors and dysfunctions in many organs, including the brain. Aside from the...
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Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations
BackgroundTuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients...
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Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
BackgroundThe randomised double-blinded placebo-controlled EXIST-1–3 studies have showed everolimus effective with adverse effects reported as...
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Blood pressure and glomerular filtration rate in youth with tuberous sclerosis complex
Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterized by the development of angiomyolipoma and cysts. The aims of...
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Predictive model for epileptogenic tubers from all tubers in patients with tuberous sclerosis complex based on 18F-FDG PET: an 8-year single-centre study
BackgroundMore than half of patients with tuberous sclerosis complex (TSC) suffer from drug-resistant epilepsy (DRE), and resection surgery is the...
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Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex
BackgroundTuberous sclerosis complex (TSC) results in neurodevelopmental phenotypes, benign tumors, and cysts throughout the body. Recent studies...
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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
BackgroundTuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 ...
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Pharmacotherapy for Seizures in Tuberous Sclerosis Complex
Epilepsy is one of the main symptoms affecting the lives of individuals with tuberous sclerosis complex (TSC), causing a high rate of morbidity....
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Effect of mTOR Inhibitors in Epilepsy Treatment in Children with Tuberous Sclerosis Complex Under 2 Years of Age
IntroductionMechanistic target of rapamycin (mTOR) inhibitors sirolimus and everolimus are an effective therapy for subependymal giant cell...
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Mammalian target of rapamycin inhibitors for the treatment of astrocytic hamartoma in tuberous sclerosis complex (TSC)
PurposeTuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder. Fifty percent of patients with TSC will develop retinal astrocytic...
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Topical Sirolimus 0.2% Gel for the Management of Tuberous Sclerosis Complex-Related Cutaneous Manifestations: An Interim Analysis of Postmarketing Surveillance in Japan
IntroductionTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder affecting several organs, including skin. We sought to...
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Patient and Caregiver Health State Utilities in Tuberous Sclerosis Complex
BackgroundTuberous sclerosis complex (TSC) is a rare multisystem disorder often associated with treatment-resistant epilepsy. Cost-effectiveness...
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Characterization and management of facial angiofibroma related to tuberous sclerosis complex in the United States: retrospective analysis of the natural history database
BackgroundFacial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic...
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Isolated subependymal giant cell astrocytoma (SEGA) in the absence of clinical tuberous sclerosis: two case reports and literature review
PurposeSubependymal giant cell astrocytoma (SEGA) is a WHO grade I pediatric glioma arising in 5–15% of patients with tuberous sclerosis (TSC). Rare...
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The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort
BackgroundTuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout...
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Multifocal micronodular pneumocyte hyperplasia lacking typical clinical features of the tuberous sclerosis complex: a case report and literature review
BackgroundMultifocal micronodular pneumocyte hyperplasia (MMPH) is a rare pulmonary manifestation of the tuberous sclerosis complex (TSC) with...
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Managing Headache Disorders Associated with Tuberous Sclerosis and Neurofibromatosis
Purpose of ReviewTuberous sclerosis complex (TSC) and neurofibromatosis (NF) are neurocutaneous disorders often encountered by neurologists in...
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The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry
BackgroundMTOR inhibition is an effective treatment for many manifestations of tuberous sclerosis complex. Because mTOR inhibition is a disease...
