Neuronal expression of Retinoid-Related Orphan Receptor Gamma (RORγ) and revisiting its role in the Central Nervous System.

Safety Signals Enable Single-Episode Active Avoidance paradigm and Expose Threat Generalization in Tuberous Sclerosis Complex.

Contributors to Parenting Stress in Tuberous Sclerosis Complex at Preschool Age.

Tuberous sclerosis complex.

Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report.

Extracellular 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.

High-frequency ultrasound in genodermatoses.

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.

Interpretable EEG biomarkers for neurological disease models in mice using bag-of-waves classifiers.

Merritt-Putnam Symposium | Tumor-Associated Epilepsy and Epilepsy-Associated Tumors: Exploring the Bidirectional Crosstalk Between Tumors and Seizures.

Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.

Landscaping evidence on first-line therapies for infantile epileptic spasms syndrome: An umbrella review.

White matter abnormalities in tuberous sclerosis complex: a systematic review of diffusion tensor imaging studies.

Development and validation of interpretable multimodal clinical-radiomics models for predicting epileptogenic foci and surgical outcomes in tuberous sclerosis complex: A multicenter study.

Clinical characteristics and outcomes of pediatric cardiac masses: A 20-year retrospective single-center experience.

Multifocal micronodular pneumocyte hyperplasia in the absence of tuberous sclerosis complex: A case report.

Nitric Oxide-Mediated S-Nitrosylation of TSC2 Drives mTOR dysregulation across Shank3 and Cntnap2 Models of Autism Spectrum Disorder.

Dual regulatory roles of CPT1C in chronic stress-induced depression-related outcomes.

Educational attainment of individuals with lymphangioleiomyomatosis is a determinant of timely diagnosis and treatment uptake.

Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.

TSC2/PKD1 contiguous gene deletion syndrome.

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.

Clinically Silent Seizures in Neonates with Tuberous Sclerosis: An International Case Series.

TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex.

Retinal Astrocytic Hamartoma in a Child With Neurofibromatosis Type 1 Treated With Selumetinib.

Integration of intraoperative ultrasound and depth-electrode electrocorticography for resection guidance in epilepsy surgery: technical workflow and feasibility.

Case Report: mTOR inhibitor treatment for epithelioid angiomyolipoma harboring biallelic TSC2 mutations.

Clinical profiles of tuberous sclerosis complex: A regionally based survey.

TSC-associated microglial hyperactivity: enhanced calcium signaling, metabolism, and phagocytosis.

Genkwanin enhances survival of rat random skin flap: promoting autophagic flux by modulation of AMPK/TSC2/mTOR signaling pathway through SIRT1.

Bidirectional sleep-seizure interactions and orexin in a mouse model of tuberous sclerosis complex-related epilepsy.

Impact of prenatal sirolimus on cardiac rhabdomyomas and brain tubers.

Parameter-efficient convolutional neural network for drug treatment outcome studies of pediatric epilepsy.

Seizure and aspiration complicating acute expanding epidural hematoma in a tuberous sclerosis adolescent: a case report of clinical and surgical emergency.

Molecular convergence enables precision medicine for pediatric low grade gliomas.

Tuberous sclerosis complex with multisystem involvement: A case report.

mTOR pathway mediates the endoplasmic reticulum stress -apoptosis of CD4+ T cell through inhibiting autophagy flux in sepsis.

Rhabdomyomas of the Mitral Valve: Case Series and Conservative Management Approach.

Jumping-induced hypomotor seizure in a toddler with tuberous sclerosis complex.

Long-Term Impact of Cenobamate on Cognition, Adaptive Behavior, and Quality of Life in Patients with Tuberous Sclerosis Complex.

Successful Everolimus Therapy for Atrioventricular Block Due to Cardiac Rhabdomyoma Associated With Tuberous Sclerosis Complex.

Development and validation of the Klinefelter-Associated Neurodevelopmental Difficulties (KAND) Checklist: a three-phase mixed-methods study.

Quality 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.

Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex.

Dual renal pathologies in tuberous sclerosis complex: bilateral renal angiomyolipomas and concurrent left renal cell carcinoma.

Malignant Progression of Subependymal Giant Cell Astrocytoma-Imitating Fibrous Meningioma in a Child Carrying a Germline <italic>CHEK2</italic> Mutation.

A rare early-onset bilateral renal cysts, focal seizures in a 1-year-old male with tuberous sclerosis and No mutation identified.

Possible earliest depiction of tuberous sclerosis complex in Bernardo de' Rossi (1468-1527).

G Protein-Coupled Receptor 32 Contributes to Inflammation Resolution and Neuronal Excitability Dysfunction in Patients With Focal Cortical Dysplasia IIb and Tuberous Sclerosis Complex.

Alternative Lengthening of Telomeres in Malignant Perivascular Epithelioid Cell Neoplasms: Correlation With Molecular Features Including ATRX Gene Mutation Status.

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

Epilepsy, neuroinflammation and cannabidiol What do we know thus far?

A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events.

High prevalence of orocutaneous features in Yemeni patients with tuberous sclerosis complex.

Intraoral Giant Cell Fibroma in a Young Patient with Tuberous Sclerosis Complex: A Case Report of a Rare Occurrence.

Non-syndromic Multifocal Low-Grade Oncocytic Renal Tumors, Including Microtumors, in End-Stage Renal Disease Kidneys with Synchronous Non-TSC Renal Cell Neoplasms.

Autism Observation Scale for Infants: Systematic Review and Meta-Analysis in Samples at Increased Likelihood of Autism Spectrum Disorders.

Renal Function Outcomes in Tuberous Sclerosis Complex Patients Receiving Everolimus for Renal Angiomyolipoma.

Rasd2 Knockout Exaggerates the Hearing Loss Phenotype of Tsc1-Deficient Mice.

MRI features of joint capsule-originating hamartomas in a pediatric patient with tuberous sclerosis: a novel case report.

Delayed Diagnosis of Tuberous Sclerosis Complex: A Case Report of Abdominal Distension, Pain, and Severe Anemia.

Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.

Oroxylin A Suppresses Pathological Vascular Smooth Muscle Cell Phenotypic Switching and Neointima Formation Through Hindering TSC2/mTORC1/HIF-1-Dependent Glycolysis.

Ictal vomiting as the first manifestation of Tuberous Sclerosis Complex: report of two pediatric cases.

Recent advances in understanding the pathogenesis, diagnosis, and treatment of tuberous sclerosis complex (TSC)-associated Lymphangioleiomyomatosis.

Chromophobe thyroid carcinoma: a distinct entity associated with TSC gene alterations.

Cutaneous manifestations of tuberous sclerosis complex in adults.

Collagen Deposition in Tuberous Sclerosis Complex Is Driven Through KDM6A-Mediated Activation of ERK/SNAI1 Signaling.

Fibroma-Like PEComa as an Early Indicator of Tuberous Sclerosis Complex: Confirmed With Strong GPNMB Expression and TSC2 Germline Mutation.

Smart bio-implants for seizure prediction in tuberous sclerosis complex.

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.

Anti-seizure potential of J4, an equilibrative nucleoside transporter 1 inhibitor, in a mouse model of tuberous sclerosis complex in response to pentylenetetrazol.

TSC2 is a positive master regulator of cellulase production by affecting protein secretion in Trichoderma reesei.

Deployable seizure forecasting requires clinically meaningful performance: Response to Stirling et al.

Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.

Shagreen Patch in Tuberous Sclerosis Complex at High-Frequency Ultrasound.

Pharmacological and Pharmacokinetic Profile of Cannabidiol in Human Epilepsy: A Review of Metabolism, Therapeutic Drug Monitoring, and Interactions with Antiseizure Medications.

A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement.

The correlation between tuber burden and epilepsy onset in children with tuberous sclerosis complex.

TSC1 deficiency drives immune evasion in colorectal cancer via mTORC1-mediated dysregulation of PD-L1 sialylation.

Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm.

The critical role of the proto-oncogene c-Kit in TSC renal cystogenesis.

c-KIT joins the TSC ToolKIT: a new driver of renal cystogenesis.

Sensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome.

The Fourth Ventricle, A Rare Location for Subependymal Giant Cell Astrocytoma (SEGA): A Rare Case Report.

High-salt diet induces immune-independent re-differentiation, metabolic shut down and cell cycle arrest of melanoma.

Daily Care Concerns Among Mothers of Children With Developmental and Epileptic Encephalopathies: A Qualitative Study Using In-Depth Interviews.

Neuroimaging in tuberous sclerosis complex: 7T MRI discloses a much larger number of tubers than conventional MRI.

Conjunctival lymphangioma as the initial manifestation of tuberous sclerosis complex in a child.

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning.

Neuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models.

Genetic Association and Functional Prediction of PTEN and TSC1 3'UTR Variants in Autism Spectrum Disorder Among Tunisian Patients.

Canagliflozin as a Potential Preclinical Therapy for Tuberous Sclerosis Complex: Inhibition of Tsc2 -/- Cell Proliferation via Cell Cycle Arrest and Mitochondrial Dysfunction.

Clinical outcomes following stereotactic MRI-guided laser ablation in children with tuberous sclerosis complex and intractable epilepsy.

Cardiac rhabdomyomas in tuberous sclerosis complex: clinical manifestations and genotype correlations.

The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues.

[Clinicopathological and molecular genetic characteristics of multifocal micronodular pneumocyte hyperplasia (MMPH)].

Altered somatostatin receptor 3 expression and functional dysregulation in tuberous sclerosis complex.

Gut microbiota signatures in tuberous sclerosis complex and epilepsy: a pilot study.

TSC tunes progenitor balance and upper-layer neuron generation in neocortex.

Renal epithelioid angiomyolipoma: A multi-institutional, international cohort study with emphasis on clinicopathologic prognostic indicators.

Stereotactic radiosurgery for subependymal giant cell astrocytoma: Multi-institutional retrospective analysis of clinical and radiological outcomes.

Surgical trapping and everolimus therapy for a giant internal carotid aneurysm in pediatric tuberous sclerosis complex: case report and literature review.

Spatial gene expression profiling reveals the distinct microenvironment of tuberous sclerosis complex-associated angiomyolipoma.

Phenotypic individual clusters and metabolic tuber subtypes refine surgical strategy in tuberous sclerosis complex.

Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.

Hereditary syndromes and RCC: what radiologists need to know.

Diagnosis and Management of Children With Tuberous Sclerosis Complex.

Multifocal micronodular pneumocyte hyperplasia in a patient with undiagnosed tuberous sclerosis: next-generation sequencing of a lung biopsy reveals TSC1 mutation-a case report.

Prefrontal oxytocin receptor positive cells mediate stress-induced anxiety in tuberous sclerosis complex.

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex.

Macrophages lacking TSC2 have mTORC1-dependent increased GPNMB and ameliorate ventricular dysfunction/remodeling after ischemia-reperfusion.

Focal postnatal deletion of Tsc2 causes epilepsy.

The lysosome and proteostatic stress at the intersection of pediatric neurological disorders and adult neurodegenerative diseases.

Resolution of brady- and tachyarrhythmias with everolimus in a child with tuberous sclerosis complex: A case report.

Evolution in the use of epilepsy surgery in tuberous sclerosis complex. Analysis of the Pediatric Health Information System over two decades.

Uncomplexed-TSC1 deploys novel mTORC1-independent pathway to exacerbate the liver glycogen storage in TSC.

Xanthomatous giant cell renal cell carcinoma: clinicopathologic and molecular characterization of 2 additional cases with biallelic TSC2 mutations.

Unraveling the microRNA mosaic: mechanisms and implications in focal cortical neurodevelopmental disorders.

Kidneys in Children with Tuberous Sclerosis Complex-An Up-to-Date Review.

Cortical Tubers' Transformation in Pediatric Patients Diagnosed with Tuberous Sclerosis Complex: A Retrospective Longitudinal MRI Analysis.

Systematic review of indirect costs to families of children with developmental epileptic encephalopathies.

Renal Epithelioid Angiomyolipoma: A Case Report.

Novel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation.

Tuberous sclerosis complex-associated renal cell carcinoma, an underappreciated form of familial renal cancer, is characterized by activation of the TFEB/TFE3 pathway.

[Application of nephron-sparing surgery in tuberous sclerosis complex associated renal angiomyolipoma].

Tuberous Sclerosis Complex Associated with Hypothyroidism: A Case Report.

A Case of TSC2/PKD1 Contiguous Gene Deletion Syndrome With Proven Kidney Pathology.

Limited Utility for Head Ultrasounds in the Evaluation of Tuberous Sclerosis Complex.

Laparoscopic nephrectomy for giant ruptured renal angiomyolipoma in tuberous sclerosis: case report and literature review.

Fetal therapy with mTOR inhibitors in cardiac rhabdomyoma and lymphatic malformations.

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism.

Renal Epithelioid Angiomyolipomas: Clinicopathological Features, Diagnosis, and Management.

Loss of Tsc1 in Osterix-expressing cells leads to greater bone mass and strength in mice.

Real-world efficacy and safety of cannabidiol in developmental and epileptic encephalopathies.

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.

Retinal astrocytic hamartoma with/without tuberous sclerosis: A comparative analysis by multimodal imaging.

Case Report: Fetal cardiac rhabdomyoma caused by TSC1 mutation.

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.

Relationship between cortical tuber subtypes and interictal epileptiform discharges in tuberous sclerosis complex: MRI and scalp-EEG study.

Efficacy and safety of vigabatrin as preventive therapy for children with tuberous sclerosis complex: A systematic review and meta-analysis.

Spontaneous Retroperitoneal Haemorrhage From Bilateral Renal Angiomyolipomas: A Case Report on a First Presentation of Tuberous Sclerosis Complex.

p53 Drives Lung Cancer Regression through a TSC2/TFEB-dependent Senescence Program.

Cardiac Rhabdomyoma in a Neonate.

Current Perspectives on The Diagnosis and Management of Lymphangioleiomyomatosis.

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

Developmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, Italy.

Drug-Resistant Epilepsy in Individuals With Tuberous Sclerosis Complex: Don't Wait Too Long to Consider Surgery.

Resective Surgery for Drug-Resistant Epilepsy in Patients With Tuberous Sclerosis Complex: A Prospective Nationwide Multicenter Cohort Study.

Application of population pharmacokinetic modeling of SVG-101 to evaluate proper dose selection.

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex.

Rigorous evaluation of five models for e-diary-only seizure forecasting: Retrospective and prospective datasets do not outperform the Napkin method.

Aberrant HCN4 channel expression: Impacts on neuronal excitability and implications for epilepsy pathogenesis.

mTOR dysregulation induces IL-6 and paracrine AT2 cell senescence impeding lung repair in lymphangioleiomyomatosis.

Neurodevelopmental Outcomes From the PREVeNT Trial.

Trifluoperazine, an Antipsychotic Drug, Inhibits Viability of Cells Derived From SEGA and Cortical Tubers Cultured In Vitro.

Recent Advances in the Management of Seizures in Children.

Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review.

Renal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation.

Successful resection of large subependymal giant cell astrocytoma using presurgical mammalian target of rapamycin inhibitor.

Common Causes of Hypopigmentation in Children.

Regulating osteogenic differentiation of bone marrow mesenchymal stem cells by mTORC1 signaling pathway inhibits bone defect repair in mice.

Beyond the uterus: diagnostic puzzle unravelled as benign metastasising leiomyomatosis with retroperitoneal and pulmonary involvement.

UCHL1 enhances TSC1 transcription by stabilizing FOXO1 through deubiquitination in knee osteoarthritis.

Primary Synovial Sarcoma of the Ethmoid Sinus in a Young Female: A Rare Case Associated With Tuberous Sclerosis Complex.

Management of a Large Rhabdomyoma with Sirolimus and Antiarrhythmic Agents.

Loss of tuberous sclerosis complex 2 confers inflammation via dysregulation of nuclear factor kappa-light-chain-enhancer of activated B cells.

Late failure of Everolimus in a patient with tuberous sclerosis complex after 10 years of effective response: an illustrative case.

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis?

Single nuclei transcriptomics reveals cellular diversity in TSC subependymal giant cell astrocytomas.

Cell-cell communication dysregulation in tuberous sclerosis complex cortical tubers and focal cortical dysplasia.

Availability and affordability of cannabinoids for epilepsy treatment across different geographic settings-A survey from the ILAE Plant-Based Therapy Task Force.

Clinicopathological 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.

Huge cardiac rhabdomyoma in a neonate: A surgical challenge.

Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.

Genetic epilepsies as a cause of seizures in Neonates.

High-throughput bioprinting to produce micropatterned neuroepithelial tissues and model TSC2-deficient brain malformations.

Structural basis for mTORC1 activation on the lysosomal membrane.

Spectrum of epileptogenicity in different cortical tuber radiological subtypes: A stereoelectroencephalographic study.

Inhibition of GSK3 and TSC2 Mediates the Oncogenic Activity of AKT in Hepatocellular Carcinoma.

AAV hamartin gene therapy in a stochastic, cerebral mouse model of tuberous sclerosis type 1.

Extracellular Matrix and Fibroblast Activation in Lymphangioleiomyomatosis.

Death-associated protein kinase 1: a double-edged sword in health and disease.

Amino acid-dependent TSC2 dephosphorylation by lysosome-PP2A regulates mTORC1 signaling transduction.

Inflammatory, Functional, and Compositional Changes of the Uterine Immune Microenvironment in a Lymphangioleiomyomatosis Mouse Model.

[Low Abuse Potential of Plant-Derived Highly Purified Cannabidiol: A Narrative Review].

Targeting NRF2 and FSP1 to Overcome Ferroptosis Resistance in TSC2-Deficient and Cancer Cells.

Unmet needs and challenges faced by caregivers in tuberous sclerosis complex: An integrative review.

Cutaneous 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.

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.

[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].

SACF and GILA assays on AML12 cells show limited predictive value for mouse liver genotoxicity.

Very low-dose Everolimus therapy diminishes cardiac tumours in tuberous sclerosis complex disease.

An interpretable machine learning approach for predicting drug-resistant epilepsy in children with tuberous sclerosis complex.