... Tuberous sclerosis complex (TSC) is a phenotypically heterogeneous autosomal dominant disease. Dhawan et al. identify four subgroups of TSC—mild, neuropsychiatric, angiomyolipoma-predominant, and infantile—each associated with distinct genetic changes. These findings could help pave the way...

...: [email protected] 28 06 2024 15 11 2024 22 01 2025 Abstract Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease...

...://www.nationalarchives.gov.uk/doc/open-government-licence/version/3/ ). cardiac computed tomography cardiac magnetic resonance tuberous sclerosis myocardial infiltration A 52-year-old male with known tuberous sclerosis complex (TSC1 gene, paternally inherited) and chronic progressive external ophthalmoplegia (CPEO...

...), are pathognomonic for tuberous sclerosis complex (TSC). To model these neurons, we recently generated a murine Tsc1 conditional knockout model in which Tsc1 deletion in late embryonic radial glia results in neuronal hypertrophy of a subset of isocortical pyramidal neurons. In the current study, we...

... will review data on damage to the cerebellum from cerebellar lesions, tumors, and several syndromes (Joubert syndrome, Fragile X, and tuberous sclerosis). Collectively, these studies raise the question of whether the cerebellum really has a role in autism spectrum disorder. Autism spectrum disorder is now...

...://creativecommons.org/licenses/by-nc/4.0/ ), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Tuberous sclerosis complex affects the immature brain and so is particularly...

... of the mechanistic target of rapamycin in SLE: explosion of evidence in the last five years . Curr Rheumatol Rep 2016 ; 18 : 73 . [4] Krueger DA , Northrup H , Group ITSCC . Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous...

... syndrome. adolescence amygdala fear conditioning medial prefrontal cortex tuberous sclerosis complex 2 Ministère de l’Enseignement Supérieur, de la Recherche, et de l’Innovation France-Australia Science Innovation Collaboration 43402ZA Paris-Saclay University REC-2018-031...

..., distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Abstract Background Cardiac rhabdomyoma are the most common cardiac tumour in childhood and are associated with tuberous sclerosis complex (TSC) up...

...Noelle K X Chung; Peter Metherall; Janet A McCormick; Roslyn J Simms; Albert C M Ong Graphical Abstract Figure. Tuberous sclerosis complex (TSC) is an autosomal dominant disease with an estimated...

... regulators of the mTOR cascade cause epilepsies, malformations of cortical development (MCD) and neurodevelopmental disorders. ⁷ The neurological manifestations of tuberous sclerosis complex (TSC) include drug-resistant epilepsy (DRE), focal cortical dysplasia (FCD) and neuropsychiatric disorders...

... and neuropsychiatric disorders of infants diagnosed with tuberous sclerosis complex (TSC) within 3 months of age at a neonatal intensive care unit (NICU) to better understand the different outcomes from early screening. Methods In this retrospective study, we consisted of 42 infants with a definitive TSC diagnosis...

... Söylemezoğlu; Katarzyna Kotulska; Lieven Lagae; Anna C Jansen; David J Kwiatkowski; Sergiusz Jozwiak; Paolo Curatolo; Eleonora Aronica Abstract Tuberous sclerosis complex (TSC) is a monogenetic disease that arises due to mutations in either the TSC1 or TSC2 gene and affects multiple organ...

... Abstract Tuberous sclerosis complex (TSC), a rare genetic disorder caused by a mutation in the TSC1 or TSC2 gene, is characterized by the growth of hamartomas in several organs. This includes the growth of low-grade brain tumors, known as subependymal giant cell astrocytomas (SEGA...

... Rhabdomyoma, the most common histopathological finding, is often associated with tuberous sclerosis complex (TSC), a systemic genetic disorder. ^1–4 Cardiac rhabdomyomas (CRs) are multiple and usually silent in most TSC patients. Symptoms, when appearing, relate to the lesion number, size...

... Shiyong Liu, Tao Yu, Yuguang Guan, Kai Zhang and Ping Ding contributed equally to this work. At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy. Liu et al. report the long-term seizure...

..., Mailstop BCH3429, Boston, MA 02115, USA. Email: [email protected] Abstract Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by benign tumors throughout the body; it is generally diagnosed early in life and has a high prevalence of autism spectrum disorder (ASD...

... to disclose. Abbreviations: mTOR mechanistic target of rapamycin PNET pancreatic neuroendocrine tumor SEGA subependymal giant cell astrocytoma TSC tuberous sclerosis complex References and Notes 1. Arva NC , Pappas JG , Bhatla T , Raetz EA , Macari M...

[email protected] Abstract Background A reduction in renal angiomyolipoma volume observed with everolimus (EVE) treatment in patients with tuberous sclerosis complex (TSC) has been postulated to translate to clinical benefit by reducing the risk of renal hemorrhage and chronic renal failure. Methods The long...

... human research ethics committee. Abstract Background Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort...