É uma doença genética que se manifesta por convulsões, deficiência intelectual, atraso no desenvolvimento e lesões na pele e nos olhos. Os primeiros sinais geralmente surgem na fase de bebê ou criança, mas em casos raros podem não aparecer até os 20 ou 30 anos de idade.
Introdução
O que você precisa saber de cara
É uma doença genética que se manifesta por convulsões, deficiência intelectual, atraso no desenvolvimento e lesões na pele e nos olhos. Os primeiros sinais geralmente surgem na fase de bebê ou criança, mas em casos raros podem não aparecer até os 20 ou 30 anos de idade.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 29 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 83 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (PubMed:16914093, PubMed:8666937). Primarily signals through the JAK-STAT pathway after interaction with its receptor IFNGR1 to affect gene regulation (PubMed:8349687). Upon IFNG binding, IFNGR1 intracellular domain opens out to allow association of downstream signaling compone
Secreted
Aplastic anemia
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12842888, PubMed:12906785, PubMed:15340059, PubMed:22819219, PubMed:24529379, PubMed:28215400, PubMed:33436626, PubMed:35772404). Within the TSC-TBC complex
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 2
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:12172553, PubMed:12271141, PubMed:12906785, PubMed:15340059, PubMed:24529379, PubMed:28215400). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a
Lysosome membraneCytoplasm, cytosol
Tuberous sclerosis 1
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
Medicamentos e terapias
Mecanismo: FK506-binding protein 1A inhibitor
Mecanismo: GABA-A receptor; anion channel positive allosteric modulator
Mecanismo: FK506-binding protein 1A inhibitor
Variantes genéticas (ClinVar)
3,962 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
13 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Complexo esclerose tuberosa
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
18 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
126 ensaios clínicos encontrados, 26 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 3.379
Contributors to Parenting Stress in Tuberous Sclerosis Complex at Preschool Age.
This study aimed to identify child and family characteristics contributing to parenting stress in parents of young children with tuberous sclerosis complex (TSC). Data on 98 children with TSC aged 3 to 6 years old were gathered as part of a study on the assessment and treatment of behavior problems in TSC. Families recruited throughout North America participated in telehealth assessments, in which child developmental, behavioral, and medical history data were gathered, along with family demographics and parenting stress. The relationship between parenting stress and child and family variables was investigated through univariate and multivariate analysis. A substantial minority of parents reported elevated levels of parenting stress, with the greatest elevations in perceptions of their child as difficult. Higher child externalizing problems, internalizing problems, and social withdrawal contributed to greater parenting stress in multivariate analysis. Lower child adaptive skills were associated with more parenting stress. Financial problems related to medical care and child seizure severity also contributed to variation in parenting stress. Results offer novel insights into specific behavioral, developmental, and medical domains that present challenges when parenting a young child with TSC. Challenging child behaviors are a primary driver of parenting stress in families of preschool-aged children with TSC, along with other common traits, including social withdrawal and developmental delay. Addressing contributors to parenting stress through behavioral interventions and psychoeducation about expected developmental trajectories may enable parents to better manage the many demands of caring for a young child with TSC.
Tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a rare genetic disease caused by heterozygous loss-of-function variants in TSC1 or TSC2. Patients present with benign tumours known as hamartomas in the brain, eyes, lungs, kidneys, heart and skin. Many hamartomas contain mosaic second hit variants in TSC1 or TSC2. The most disabling features of TSC include epilepsy and TSC-associated neuropsychiatric disorders (TAND) such as intellectual disability and autism spectrum disorder. Remarkable progress has been made both in understanding the pathogenesis of TSC and in its clinical management, largely due to the discovery of the link between TSC1 and TSC2 and the mechanistic target of rapamycin (mTOR) signalling pathway. TSC1 and TSC2 form a protein complex that inhibits mTOR. Naturally occurring inhibitors of mTOR (rapamycin) and its analogues, collectively known as rapalogues, have been used to test various hypotheses in preclinical models and are approved for the treatment of several manifestations of TSC. Approved drug treatments (rapalogues) exist for subependymal giant cell astrocytomas, renal angiomyolipomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas and refractory seizures. However, there is still an unmet need for effective treatment of TAND and refractory epilepsy, despite the available medical and surgical options.
An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.
High-throughput, single-cell resolution profiling of neuronal activity is critical for understanding brain function and modeling neurological disorders, yet existing approaches are often limited by scalability and manual workflows. Here, we present an open-source, scalable imaging and analysis platform that integrates optogenetic stimulation, calcium imaging, automated acquisition, single-cell and network analyses. The platform enables robust quantification of spontaneous and evoked neuronal activity across hundreds of human stem cell-derived neurons over multiple timepoints, supporting functional phenotyping at both cellular and network levels. We demonstrate the versatility of the platform across multiple disease-relevant contexts, including models of CDKL5 Deficiency, SSADH Deficiency, and tuberous sclerosis complex (TSC). Additionally, we generate CRISPR-Cas9 knock-in hiPSC lines expressing GCaMP6s and demonstrate partial reversal through pharmacological intervention in TSC. By linking single-cell dynamics to network-level measures, this platform provides a generalizable framework for scalable functional phenotyping and high-throughput screening in human neuronal models.
Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes.
Language impairments impact 72% of individuals with tuberous sclerosis complex (TSC). Nevertheless, evaluations are often delayed until children are 7 years old or older. Earlier prediction of language impairment is needed. Infant vocal behavior is a predictor of language development in typically developing children, but early vocal development had not been studied in TSC until recent research on 38 infants. In this study, the canonical babbling ratio (CBR) and volubility, key indicators of infant vocal behavior, were low. CBR reflects the proportion of syllables that are canonical and volubility reflects either production of utterances or syllables per minute. The present study has the following three goals: (1) To expand CBR and volubility characterization, (2) To evaluate predictiveness of CBR and volubility for autism spectrum disorder (ASD) and language outcomes, and (3) To determine if the contribution of CBR to prediction is independent of other known predictors. We analyzed 202 recordings at 12 months for infants with TSC. Linear regression predicted language outcomes from vocal measures. Then, stepwise multiple regression compared the relative predictiveness for language outcomes of CBR and other measures known to predict language outcomes. Finally, logistic regression tested for ASD prediction. CBR and volubility were lower in TSC than in prior typically developing data. CBR was predictive of language outcomes at 24 months for infants with TSC even when competing against other known predictors, but neither CBR nor volubility predicted ASD. CBR may have utility for early identification of language impairments in TSC.
Development and validation of interpretable multimodal clinical-radiomics models for predicting epileptogenic foci and surgical outcomes in tuberous sclerosis complex: A multicenter study.
Precise localization and resection of epileptogenic (epi) foci from multiple cortical foci determine surgical outcomes in the tuberous sclerosis complex (TSC). Although the use of intracranial electroencephalography (EEG) for detecting epileptic discharges remains the gold standard for identifying epi foci, its invasiveness and cost limit clinical application. We aimed to develop and validate a noninvasive, clinically applicable predictive model for epi foci identification and surgical outcome assessment in patients with TSC. This multicenter study focused on three retrospective cohorts and one prospective cohort from three comprehensive epilepsy centers from June 2013 to October 2024. Comprehensive clinical and imaging data (CT, MRI, and 18F-FDG PET) of cortical foci were collected. Nineteen individual machine learning (ML) models and three ensemble ML models (voting, averaging and super-learner [SL]) were developed on the basis of the clinical and radiomics features of cortical foci. Model performance was evaluated by using the area under the curve (AUC), accuracy, precision, specificity, and sensitivity values, along with the F1 score, with additional validation being conducted via decision curve analysis (DCA) and calibration curves. Follow-up data were collected at 1, 3, and >5 years to validate the ability of the ML models to predict long-term postoperative outcomes. Non-epi foci were clustered by using the k-means algorithm to investigate the mechanisms underlying postoperative epileptogenic transformation. A web-based tool was developed to provide a user-friendly interface for clinical application. A total of 665 cortical foci (epi foci, n = 161; non-epi foci, n = 504) were included in this study. The model integrating multimodal clinical-radiomics features performed better than the individual models based only on single-modal clinical or radiomics features did. The ensemble SL model using clinical-radiomics features demonstrated the best stability and superior predictive performance compared to those of individual models and an additional two ensemble models in prospective (AUC: 0.92) and two retrospective cohorts (AUCs: 0.91 and 0.87); moreover, it outperformed previously reported prediction models. In addition, the SL model effectively predicted 1-, 3- and >5-year surgical outcomes (AUCs: 0.93, 0.91, and 0.92, respectively). K-means revealed two clusters of non-epi foci, including those foci with epileptogenic potential and those without, which were potentially confirmed by the follow-up data. The web-based tool significantly increased the accuracy of junior clinicians (from 0.61 to 0.78), which matched the accuracy of senior clinicians (0.80). The multimodal clinical-radiomics model represents a noninvasive tool for predicting epi foci, guiding preoperative evaluation, addressing diagnostic discrepancies and enabling personalized treatment strategies in patients with TSC. The clinical application of artificial intelligence (AI)-driven clinical-radiomics models provides a useful tool and auxiliary reference for clinicians in preoperative epileptogenic foci prediction.
Publicações recentes
Adjunctive antiepileptic efficacy and safety study of mTOR inhibitors in children with tuberous sclerosis complex.
🥇 Ensaio randomizadoElectroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort.
Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis Complex.
🥈 ObservacionalMorphological patterns of fetal lateral ventricular border irregularities: descriptive study.
Real-world management of tuberous sclerosis complex-associated renal angiomyolipomas: the impact of mTOR inhibitors.
📚 EuropePMC2.677 artigos no totalmostrando 197
Neuronal expression of Retinoid-Related Orphan Receptor Gamma (RORγ) and revisiting its role in the Central Nervous System.
bioRxiv : the preprint server for biologySafety Signals Enable Single-Episode Active Avoidance paradigm and Expose Threat Generalization in Tuberous Sclerosis Complex.
bioRxiv : the preprint server for biologyContributors to Parenting Stress in Tuberous Sclerosis Complex at Preschool Age.
Pediatric neurologyTuberous sclerosis complex.
Nature reviews. Disease primersLate diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report.
Frontiers in geneticsExtracellular Polysaccharides of Eurotium cristatum from Fu Brick Tea Ameliorated Type 2 Diabetes in Mice by Remodeling of Gut Microbiota-Dependent Tryptophan Metabolism to Activate the Hepatic AhR/TSC2/mTORC1 Axis.
Journal of agricultural and food chemistryHigh-frequency ultrasound in genodermatoses.
Journal of ultrasoundAn Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes.
Pediatric neurologyInterpretable EEG biomarkers for neurological disease models in mice using bag-of-waves classifiers.
Journal of neural engineeringMerritt-Putnam Symposium | Tumor-Associated Epilepsy and Epilepsy-Associated Tumors: Exploring the Bidirectional Crosstalk Between Tumors and Seizures.
Epilepsy currentsMulticystic Kidney Disease in a Family With Tuberous Sclerosis Complex.
Nephrology (Carlton, Vic.)Landscaping evidence on first-line therapies for infantile epileptic spasms syndrome: An umbrella review.
Epilepsy researchWhite matter abnormalities in tuberous sclerosis complex: a systematic review of diffusion tensor imaging studies.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDevelopment and validation of interpretable multimodal clinical-radiomics models for predicting epileptogenic foci and surgical outcomes in tuberous sclerosis complex: A multicenter study.
PLOS digital healthClinical characteristics and outcomes of pediatric cardiac masses: A 20-year retrospective single-center experience.
Annals of pediatric cardiologyMultifocal micronodular pneumocyte hyperplasia in the absence of tuberous sclerosis complex: A case report.
Radiology case reportsNitric Oxide-Mediated S-Nitrosylation of TSC2 Drives mTOR dysregulation across Shank3 and Cntnap2 Models of Autism Spectrum Disorder.
Molecular psychiatryDual regulatory roles of CPT1C in chronic stress-induced depression-related outcomes.
Molecular psychiatryEducational attainment of individuals with lymphangioleiomyomatosis is a determinant of timely diagnosis and treatment uptake.
Orphanet journal of rare diseasesCase Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.
Frontiers in pediatricsTSC2/PKD1 contiguous gene deletion syndrome.
Kidney internationalSevere Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.
Molecular genetics & genomic medicineLong-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.
Clinical and experimental pediatricsClinically Silent Seizures in Neonates with Tuberous Sclerosis: An International Case Series.
NeonatologyTSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex.
Neurology. GeneticsRetinal Astrocytic Hamartoma in a Child With Neurofibromatosis Type 1 Treated With Selumetinib.
PediatricsIntegration of intraoperative ultrasound and depth-electrode electrocorticography for resection guidance in epilepsy surgery: technical workflow and feasibility.
Acta neurochirurgicaCase Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic TSC2 mutations.
Frontiers in oncologyClinical profiles of tuberous sclerosis complex: A regionally based survey.
Brain & developmentTSC-associated microglial hyperactivity: enhanced calcium signaling, metabolism, and phagocytosis.
Acta neuropathologicaGenkwanin enhances survival of rat random skin flap: promoting autophagic flux by modulation of AMPK/TSC2/mTOR signaling pathway through SIRT1.
Biochemical pharmacologyBidirectional sleep-seizure interactions and orexin in a mouse model of tuberous sclerosis complex-related epilepsy.
EpilepsiaImpact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyParameter-efficient convolutional neural network for drug treatment outcome studies of pediatric epilepsy.
Scientific reportsSeizure and aspiration complicating acute expanding epidural hematoma in a tuberous sclerosis adolescent: a case report of clinical and surgical emergency.
BMC neurologyMolecular convergence enables precision medicine for pediatric low grade gliomas.
Discover oncologyTuberous sclerosis complex with multisystem involvement: A case report.
The Journal of international medical researchmTOR pathway mediates the endoplasmic reticulum stress -apoptosis of CD4+ T cell through inhibiting autophagy flux in sepsis.
Inflammation research : official journal of the European Histamine Research Society ... [et al.]Rhabdomyomas of the Mitral Valve: Case Series and Conservative Management Approach.
Pediatric cardiologyJumping-induced hypomotor seizure in a toddler with tuberous sclerosis complex.
Epileptic disorders : international epilepsy journal with videotapeLong-Term Impact of Cenobamate on Cognition, Adaptive Behavior, and Quality of Life in Patients with Tuberous Sclerosis Complex.
Neurology and therapySuccessful Everolimus Therapy for Atrioventricular Block Due to Cardiac Rhabdomyoma Associated With Tuberous Sclerosis Complex.
JACC. Case reportsDevelopment and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.
Journal of neurodevelopmental disordersQuality of life and disease burden in tuberous sclerosis and comparison with the population with idiopathic autism spectrum disorder: an investigation conducted through questionnaires and clinical data collection in the pediatric population.
Frontiers in psychiatryInvestigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex.
BMC psychiatryDual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.
BMJ case reportsMalignant Progression of Subependymal Giant Cell Astrocytoma-Imitating Fibrous Meningioma in a Child Carrying a Germline <italic>CHEK2</italic> Mutation.
Pathobiology : journal of immunopathology, molecular and cellular biologyA rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified.
Oxford medical case reportsPossible earliest depiction of tuberous sclerosis complex in Bernardo de' Rossi (1468-1527).
Journal of neurologyG Protein-Coupled Receptor 32 Contributes to Inflammation Resolution and Neuronal Excitability Dysfunction in Patients With Focal Cortical Dysplasia IIb and Tuberous Sclerosis Complex.
Neuropathology and applied neurobiologyAlternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncSeizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.
Journal of neurosurgery. PediatricsEpilepsy, neuroinflammation and cannabidiol What do we know thus far?
Frontiers in pharmacologyA systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events.
Epilepsy researchHigh prevalence of orocutaneous features in Yemeni patients with tuberous sclerosis complex.
JAAD internationalIntraoral Giant Cell Fibroma in a Young Patient with Tuberous Sclerosis Complex: A Case Report of a Rare Occurrence.
International journal of clinical pediatric dentistryNon-syndromic Multifocal Low-Grade Oncocytic Renal Tumors, Including Microtumors, in End-Stage Renal Disease Kidneys with Synchronous Non-TSC Renal Cell Neoplasms.
International journal of surgical pathologyAutism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.
Review journal of autism and developmental disordersRenal Function Outcomes in Tuberous Sclerosis Complex Patients Receiving Everolimus for Renal Angiomyolipoma.
European urology open scienceRasd2 Knockout Exaggerates the Hearing Loss Phenotype of Tsc1-Deficient Mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyMRI features of joint capsule-originating hamartomas in a pediatric patient with tuberous sclerosis: a novel case report.
Skeletal radiologyDelayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia.
Clinical case reportsPrenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.
Quantitative imaging in medicine and surgeryOroxylin A Suppresses Pathological Vascular Smooth Muscle Cell Phenotypic Switching and Neointima Formation Through Hindering TSC2/mTORC1/HIF-1-Dependent Glycolysis.
Phytotherapy research : PTRIctal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.
Italian journal of pediatricsRecent advances in understanding the pathogenesis, diagnosis, and treatment of tuberous sclerosis complex (TSC)-associated Lymphangioleiomyomatosis.
Biochemical pharmacologyChromophobe thyroid carcinoma: a distinct entity associated with TSC gene alterations.
Virchows Archiv : an international journal of pathologyCutaneous manifestations of tuberous sclerosis complex in adults.
Journal of the American Academy of DermatologyCollagen Deposition in Tuberous Sclerosis Complex Is Driven Through KDM6A-Mediated Activation of ERK/SNAI1 Signaling.
Clinical geneticsFibroma-Like PEComa as an Early Indicator of Tuberous Sclerosis Complex: Confirmed With Strong GPNMB Expression and TSC2 Germline Mutation.
International journal of surgical pathologySmart bio-implants for seizure prediction in tuberous sclerosis complex.
Annals of medicine and surgery (2012)Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.
American journal of medical genetics. Part AAnti-seizure potential of J4, an equilibrative nucleoside transporter 1 inhibitor, in a mouse model of tuberous sclerosis complex in response to pentylenetetrazol.
Cell & bioscienceTSC2 is a positive master regulator of cellulase production by affecting protein secretion in Trichoderma reesei.
International journal of biological macromoleculesDeployable seizure forecasting requires clinically meaningful performance: Response to Stirling et al.
EpilepsiaInfantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.
Medicina (Kaunas, Lithuania)Shagreen Patch in Tuberous Sclerosis Complex at High-Frequency Ultrasound.
Diagnostics (Basel, Switzerland)Pharmacological and Pharmacokinetic Profile of Cannabidiol in Human Epilepsy: A Review of Metabolism, Therapeutic Drug Monitoring, and Interactions with Antiseizure Medications.
BiomoleculesA Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.
Children (Basel, Switzerland)The correlation between tuber burden and epilepsy onset in children with tuberous sclerosis complex.
SeizureTSC1 deficiency drives immune evasion in colorectal cancer via mTORC1-mediated dysregulation of PD-L1 sialylation.
Frontiers in immunologyFetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm.
Frontiers in medicineThe critical role of the proto-oncogene c-Kit in TSC renal cystogenesis.
EMBO molecular medicinec-KIT joins the TSC ToolKIT: a new driver of renal cystogenesis.
EMBO molecular medicineSensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome.
Advances in therapyThe Fourth Ventricle, A Rare Location for Subependymal Giant Cell Astrocytoma (SEGA): A Rare Case Report.
Clinical case reportsHigh-salt diet induces immune-independent re-differentiation, metabolic shut down and cell cycle arrest of melanoma.
Cell death & diseaseDaily Care Concerns Among Mothers of Children With Developmental and Epileptic Encephalopathies: A Qualitative Study Using In-Depth Interviews.
Child: care, health and developmentNeuroimaging in tuberous sclerosis complex: 7T MRI discloses a much larger number of tubers than conventional MRI.
AJNR. American journal of neuroradiologyConjunctival lymphangioma as the initial manifestation of tuberous sclerosis complex in a child.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologiePredicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning.
Annals of clinical and translational neurologyNeuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models.
Cell reportsGenetic Association and Functional Prediction of PTEN and TSC1 3'UTR Variants in Autism Spectrum Disorder Among Tunisian Patients.
Molecular neurobiologyCanagliflozin as a Potential Preclinical Therapy for Tuberous Sclerosis Complex: Inhibition of Tsc2 -/- Cell Proliferation via Cell Cycle Arrest and Mitochondrial Dysfunction.
Drug design, development and therapyClinical outcomes following stereotactic MRI-guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy.
EpilepsiaCardiac rhabdomyomas in tuberous sclerosis complex: clinical manifestations and genotype correlations.
BMC pediatricsThe Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues.
Case reports in pediatrics[Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)].
Zhonghua bing li xue za zhi = Chinese journal of pathologyAltered somatostatin receptor 3 expression and functional dysregulation in tuberous sclerosis complex.
Progress in neurobiologyGut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study.
Frontiers in neuroscienceTSC tunes progenitor balance and upper-layer neuron generation in neocortex.
NatureRenal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.
Urologic oncologyStereotactic radiosurgery for subependymal giant cell astrocytoma: Multi-institutional retrospective analysis of clinical and radiological outcomes.
Neurosurgical reviewSurgical trapping and everolimus therapy for a giant internal carotid aneurysm in pediatric tuberous sclerosis complex: case report and literature review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySpatial gene expression profiling reveals the distinct microenvironment of tuberous sclerosis complex-associated angiomyolipoma.
Scientific reportsPhenotypic individual clusters and metabolic tuber subtypes refine surgical strategy in tuberous sclerosis complex.
Brain : a journal of neurologyBurden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.
Orphanet journal of rare diseasesWhole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.
BMC pregnancy and childbirthHereditary syndromes and RCC: what radiologists need to know.
Abdominal radiology (New York)Diagnosis and Management of Children With Tuberous Sclerosis Complex.
Journal of paediatrics and child healthMultifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation-a case report.
Journal of medical case reportsPrefrontal oxytocin receptor positive cells mediate stress-induced anxiety in tuberous sclerosis complex.
Communications biologyConvolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex.
EpilepsiaMacrophages lacking TSC2 have mTORC1-dependent increased GPNMB and ameliorate ventricular dysfunction/remodeling after ischemia-reperfusion.
Scientific reportsFocal postnatal deletion of Tsc2 causes epilepsy.
Frontiers in molecular neuroscienceThe lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases.
Progress in neurobiologyResolution of brady- and tachyarrhythmias with everolimus in a child with tuberous sclerosis complex: A case report.
Pediatrics international : official journal of the Japan Pediatric SocietyEvolution in the use of epilepsy surgery in tuberous sclerosis complex. Analysis of the Pediatric Health Information System over two decades.
SeizureUncomplexed-TSC1 deploys novel mTORC1-independent pathway to exacerbate the liver glycogen storage in TSC.
Cell death & diseaseXanthomatous giant cell renal cell carcinoma: clinicopathologic and molecular characterization of 2 additional cases with biallelic TSC2 mutations.
American journal of clinical pathologyUnraveling the microRNA mosaic: mechanisms and implications in focal cortical neurodevelopmental disorders.
International journal of surgery (London, England)Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review.
Journal of clinical medicineCortical Tubers' Transformation in Pediatric Patients Diagnosed with Tuberous Sclerosis Complex: A Retrospective Longitudinal MRI Analysis.
Journal of clinical medicineSystematic review of indirect costs to families of children with developmental epileptic encephalopathies.
Orphanet journal of rare diseasesRenal Epithelioid Angiomyolipoma: A Case Report.
Clinical case reportsNovel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation.
Biochemical geneticsTuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.
Human molecular genetics[Application of nephron-sparing surgery in tuberous sclerosis complex associated renal angiomyolipoma].
Zhonghua wai ke za zhi [Chinese journal of surgery]Tuberous Sclerosis Complex Associated with Hypothyroidism: A Case Report.
Neurology IndiaA Case of TSC2/PKD1 Contiguous Gene Deletion Syndrome With Proven Kidney Pathology.
Kidney medicineLimited Utility for Head Ultrasounds in the Evaluation of Tuberous Sclerosis Complex.
Pediatric neurologyLaparoscopic nephrectomy for giant ruptured renal angiomyolipoma in tuberous sclerosis: case report and literature review.
Frontiers in surgeryFetal therapy with mTOR inhibitors in cardiac rhabdomyoma and lymphatic malformations.
Best practice & research. Clinical obstetrics & gynaecologyDynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism.
Journal of visualized experiments : JoVERenal Epithelioid Angiomyolipomas: Clinicopathological Features, Diagnosis, and Management.
Cancer diagnosis & prognosisLoss of Tsc1 in Osterix-expressing cells leads to greater bone mass and strength in mice.
BoneReal-world efficacy and safety of cannabidiol in developmental and epileptic encephalopathies.
Epilepsia openGenetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
GenesRetinal astrocytic hamartoma with/without tuberous sclerosis: A comparative analysis by multimodal imaging.
Indian journal of ophthalmologyCase Report: Fetal cardiac rhabdomyoma caused by TSC1 mutation.
Frontiers in pediatricsA Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.
Clinical geneticsRelationship between cortical tuber subtypes and interictal epileptiform discharges in tuberous sclerosis complex: MRI and scalp-EEG study.
SeizureEfficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis.
SeizureSpontaneous Retroperitoneal Haemorrhage From Bilateral Renal Angiomyolipomas: A Case Report on a First Presentation of Tuberous Sclerosis Complex.
Cureusp53 Drives Lung Cancer Regression through a TSC2/TFEB-dependent Senescence Program.
Cancer discoveryCardiac Rhabdomyoma in a Neonate.
Journal of cardiovascular echographyCurrent Perspectives on The Diagnosis and Management of Lymphangioleiomyomatosis.
Clinics in chest medicine"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyDevelopmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, Italy.
Epilepsy & behavior : E&BDrug-Resistant Epilepsy in Individuals With Tuberous Sclerosis Complex: Don't Wait Too Long to Consider Surgery.
NeurologyResective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex: A Prospective Nationwide Multicenter Cohort Study.
NeurologyApplication of population pharmacokinetic modeling of SVG-101 to evaluate proper dose selection.
Translational and clinical pharmacologyNEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Rigorous evaluation of five models for e-diary-only seizure forecasting: Retrospective and prospective datasets do not outperform the Napkin method.
EpilepsiaAberrant HCN4 channel expression: Impacts on neuronal excitability and implications for epilepsy pathogenesis.
British journal of pharmacologymTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis.
Nature communicationsNeurodevelopmental Outcomes From the PREVeNT Trial.
Pediatric neurologyTrifluoperazine, an Antipsychotic Drug, Inhibits Viability of Cells Derived From SEGA and Cortical Tubers Cultured In Vitro.
Journal of neurochemistryRecent Advances in the Management of Seizures in Children.
Paediatric drugsDelayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review.
Clinical case reportsRenal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation.
Journal of medical casesSuccessful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.
Surgical neurology internationalCommon Causes of Hypopigmentation in Children.
Pediatrics in reviewRegulating osteogenic differentiation of bone marrow mesenchymal stem cells by mTORC1 signaling pathway inhibits bone defect repair in mice.
Journal of orthopaedic surgery and researchBeyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement.
BMJ case reportsUCHL1 enhances TSC1 transcription by stabilizing FOXO1 through deubiquitination in knee osteoarthritis.
Histology and histopathologyPrimary Synovial Sarcoma of the Ethmoid Sinus in a Young Female: A Rare Case Associated With Tuberous Sclerosis Complex.
Ear, nose, & throat journalManagement of a Large Rhabdomyoma with Sirolimus and Antiarrhythmic Agents.
Pediatric cardiologyLoss of tuberous sclerosis complex 2 confers inflammation via dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells.
Journal of inflammation (London, England)Late failure of Everolimus in a patient with tuberous sclerosis complex after 10 years of effective response: an illustrative case.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCoexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis?
Clinical case reportsSingle nuclei transcriptomics reveals cellular diversity in TSC subependymal giant cell astrocytomas.
iScienceCell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia.
Acta neuropathologica communicationsAvailability and affordability of cannabinoids for epilepsy treatment across different geographic settings-A survey from the ILAE Plant-Based Therapy Task Force.
EpilepsiaClinicopathological and molecular characterization of seven rare cases of renal cell carcinoma with hemangioblastoma-like features: Expanding the morphological spectrum of renal tumours with tuberous sclerosis complex/mammalian target of rapamycin mutations.
HistopathologyHuge cardiac rhabdomyoma in a neonate: A surgical challenge.
Annals of pediatric cardiologyProgress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.
Frontiers in neurologyGenetic epilepsies as a cause of seizures in Neonates.
Seminars in perinatologyHigh-throughput bioprinting to produce micropatterned neuroepithelial tissues and model TSC2-deficient brain malformations.
Cell reports methodsStructural basis for mTORC1 activation on the lysosomal membrane.
NatureSpectrum of epileptogenicity in different cortical tuber radiological subtypes: A stereoelectroencephalographic study.
EpilepsiaInhibition of GSK3 and TSC2 Mediates the Oncogenic Activity of AKT in Hepatocellular Carcinoma.
Cancer researchAAV hamartin gene therapy in a stochastic, cerebral mouse model of tuberous sclerosis type 1.
Molecular therapy. Methods & clinical developmentExtracellular Matrix and Fibroblast Activation in Lymphangioleiomyomatosis.
American journal of respiratory cell and molecular biologyDeath-associated protein kinase 1: a double-edged sword in health and disease.
Frontiers in immunologyAmino acid-dependent TSC2 dephosphorylation by lysosome-PP2A regulates mTORC1 signaling transduction.
Life science allianceInflammatory, Functional, and Compositional Changes of the Uterine Immune Microenvironment in a Lymphangioleiomyomatosis Mouse Model.
Journal of cellular immunology[Low Abuse Potential of Plant-Derived Highly Purified Cannabidiol: A Narrative Review].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanTargeting NRF2 and FSP1 to Overcome Ferroptosis Resistance in TSC2-Deficient and Cancer Cells.
CancersUnmet needs and challenges faced by caregivers in tuberous sclerosis complex: An integrative review.
Epilepsy & behavior : E&BCutaneous manifestations-associated with tuberous sclerosis complex and the use of topical rapamycin in the United States: a sub-analysis of an international survey of caregivers and patients.
Orphanet journal of rare diseasesCharacterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.
American journal on intellectual and developmental disabilities[The value of simultaneous 18F-FDG PET/MR in detecting intracranial tubers in tuberous sclerosis complex patients with epilepsy and imaging-related factors associated with the presence of tubers in the epileptogenic zone].
Zhonghua yi xue za zhiSACF and GILA assays on AML12 cells show limited predictive value for mouse liver genotoxicity.
Toxicology and applied pharmacologyVery low-dose Everolimus therapy diminishes cardiac tumours in tuberous sclerosis complex disease.
Cardiology in the youngAn interpretable machine learning approach for predicting drug-resistant epilepsy in children with tuberous sclerosis complex.
Frontiers in neurologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Contributors to Parenting Stress in Tuberous Sclerosis Complex at Preschool Age.
- Tuberous sclerosis complex.
- An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons.
- Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes.
- Development and validation of interpretable multimodal clinical-radiomics models for predicting epileptogenic foci and surgical outcomes in tuberous sclerosis complex: A multicenter study.
- Adjunctive antiepileptic efficacy and safety study of mTOR inhibitors in children with tuberous sclerosis complex.
- Electroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort.
- Exome Sequencing Identifies Additional Pathogenic Variants in Neurodevelopmental Genes in 3.6% of Individuals with Tuberous Sclerosis Complex.
- Morphological patterns of fetal lateral ventricular border irregularities: descriptive study.
- Real-world management of tuberous sclerosis complex-associated renal angiomyolipomas: the impact of mTOR inhibitors.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:805(Orphanet)
- MONDO:0001734(MONDO)
- GARD:7830(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1362721(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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