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Tuberous Sclerosis 

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  1. Open Access 01-06-2024 | Tuberous Sclerosis | OriginalPaper

    Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex

    GABAergic interneurons play a critical role in maintaining neural circuit balance, excitation–inhibition regulation, and cognitive function modulation. In tuberous sclerosis complex (TSC), GABAergic neuron dysfunction contributes to disrupted …

  2. 19-04-2024 | Tuberous Sclerosis | Online First

    Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos

    We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to hematocolpos. Further investigation revealed additional clinical features including academic struggles …

  3. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit

    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder which affects around 1 in 6000 live births [ 1 ]. The disease is characterised by hamartomas in multiple organ systems, particularly the central nervous system, skin, heart …

  4. 05-04-2024 | Tuberous Sclerosis | Online First

    Bleeding solitary SEGA in non-tuberous sclerosis complex adolescent: a case illustration and review of literature

    Subependymal giant cell astrocytoma (SEGA) represents a benign brain tumor occurring in 5–20% of individuals diagnosed with tuberous sclerosis complex (TSC), serving as a major diagnostic criterion. The presence of SEGA in a patient often prompts …

  5. Open Access 01-06-2024 | Tuberous Sclerosis | OriginalPaper

    Astroglial calcium signaling and homeostasis in tuberous sclerosis complex

    Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain, and is often accompanied by epilepsy, neurodevelopmental comorbidities including …

  6. 25-03-2024 | Tuberous Sclerosis | Online First

    Neuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey

    Epilepsy of the tuberous sclerosis complex (TSC) is the most common neurological comorbidity. It is highly associated with cortical tubers, and affected individuals usually have comorbid cognition dysfunction [ 1 ]. Models of the cellular and …

  7. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Patients’ and physicians’ awareness of clinical symptoms and disease severity in tuberous sclerosis complex

    Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to disease manifestations including …

  8. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Giant cell angiofibroma of gingiva in tuberous sclerosis complex: a case report and literature review

    Tuberous sclerosis complex (TSC) is a rare, multisystem, autosomal dominant neurocutaneous disorder that affects multiple sites of the body [ 1 ]. TSC was first described approximately 160 years ago by German pathologist Friedrich Daniel von …

  9. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Inhibition of p70 Ribosomal S6 Kinase (S6K1) Reduces Cortical Blood Flow in a Rat Model of Autism-Tuberous Sclerosis

    The manifestations of tuberous sclerosis complex (TSC) in humans include epilepsy, autism spectrum disorders (ASD) and intellectual disability. Previous studies suggested the linkage of TSC to altered cerebral blood flow and metabolic dysfunction.

  10. Open Access 14-03-2024 | Tuberous Sclerosis | Online First

    Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis

    The purpose of this study is to determine the predictive factors of tuberous sclerosis complex (TSC)-associated kidney disease and its progression in children. Retrospective review of children with TSC in a tertiary children’s hospital was …

  11. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Subependymal giant cell astrocytoma as presentation of tuberous sclerosis: a case report

    Subependymal giant cell astrocytoma (SEGA) is a low-grade, slow-growing tumour usually arising in the wall of lateral ventricle. Majority are sporadic due to somatic mutation. The incidence rate of SEGA among patients with confirmed tuberous

  12. Open Access 01-12-2024 | Rett Syndrome | ReviewPaper

    Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex

    Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are rare, single-gene disorders that can present with autism, epilepsy and intellectual disability [ 1 – 3 ]. RTT is a progressive, developmental impairment disorder that almost exclusively …

  13. 10-11-2023 | Tuberous Sclerosis | OriginalPaper

    Treatment of tuberous sclerosis complex manifestations in children with mTOR inhibitors

    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that commonly leads to the development of hamartomas in multiple major organ systems [ 1 ]. The pathogenesis is driven by uncontrolled mTOR activation caused by de novo or …

  14. Open Access 05-03-2024 | Tuberous Sclerosis | Online First

    A Cost-Utility Analysis of Add-On Cannabidiol Versus Usual Care Alone for the Treatment of Seizures Associated with Tuberous Sclerosis Complex in England and Wales

    Tuberous sclerosis complex (TSC) is a rare (orphan) multisystemic disorder with a prevalence of 1 in 25,000 to 1 in 11,300 in Europe [ 1 , 2 ]. Characterized by the formation of benign tumors in multiple organ systems [ 1 ], TSC commonly manifests …

  15. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    Healthcare provider recognition of pregnancy related risks and management considerations in patients with tuberous sclerosis complex

    Tuberous sclerosis complex (TSC) is a genetic condition that occurs in approximately 1 in 6,000 individuals and is caused primarily by loss-of-function variants in either the TSC1 or TSC2 gene, leading to overactivation of the mechanistic target of …

  16. 01-12-2024 | Everolimus | OriginalPaper

    The association between computed tomography attenuation value of renal angiomyolipoma associated with tuberous sclerosis complex and response to everolimus

    Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease affecting multiple organs or systems, including the skin, brain, heart, lungs, and kidneys. The birth incidence of TSC is approximately 1:5800 to 1:13,520 [ 1 – 3 ]. Renal …

  17. 25-10-2023 | Tuberous Sclerosis | ReviewPaper

    Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?

    Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder characterized by deficits in social communication and interactions and restrictive and repetitive patterns of behavior or interests [ 1 ]. The prevalence of ASD has …

  18. 31-10-2023 | Tuberous Sclerosis | OriginalPaper

    An updated meta-analysis of effectiveness and safety of mTOR inhibitors in the management of tuberous sclerosis complex patients

    Tuberous sclerosis complex (TSC) is an autosomal dominant multi-system disease caused by pathogenic variants in TSC1 and TSC2 [ 1 ]. The main pathological findings of TSC are benign tumors in several organs, such as subependymal giant cell …

  19. 28-09-2023 | Tuberous Sclerosis | ContinuingEducation

    Early therapy with sirolimus reduces size of a large solid renal mass but not seizure activity in an infant with tuberous sclerosis

    We report on a 2-year-old female who was prenatally diagnosed with tuberous sclerosis due to intracardiac rhabdomyomas, intracranial cortical tubers and an enlarged left kidney. She was delivered at full-term. Postnatally, she had age-appropriate …

  20. Open Access 01-12-2024 | Tuberous Sclerosis | OriginalPaper

    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

    Rare genetic neurodevelopmental disorders (RGNDs) affect up to 3% of the population [ 1 ]. RGNDs are often associated with intellectual disability (ID) and psychiatric comorbidity, including autism spectrum disorder (ASD), and attention-deficit …

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