Results 1 to 10 of about 1,419 (181)
Revista Ciencias Biomédicas, 2015 Introduction: tuberous sclerosis complex (TSC) is a neurocutaneous syndrome autosomal dominant (AD), characterized by multiple hamartomas formation due to mutation of the TSC1 and TSC2 genes responsible for encoding tumor suppressor proteins.
Barboza-Ubarnes Miriam +2 more
doaj +7 more sources
Tuberous sclerosis complex [PDF]
Cleveland Clinic Journal of Medicine, 2021 Affecting approximately 1 per 6000-10,000 individuals, tuberous sclerosis complex (TSC) is a neurocutaneous disorder that is not only uncommon but at risk to go underrecognized. Similar to other phakomatoses, TSC is a disorder of cellular proliferation and migration producing hamartomas-benign tumors or malignant cancers affecting the skin and brain ...
Carmona, Jesica Martín +3 more
+9 more sources
Epilepsy and preventive antiepileptic treatment in tuberous sclerosis complex. Literature review
Neurologijos seminarai, 2023 Tuberous sclerosis complex (TSC) is a rare genetic disorder characterized by the presence of benign tumors in many organs. The pathogenic mutation is found in either the TSC1 or TSC2 tumor suppressor genes. The presence of cortical or subcortical tubers
I. Kasiulevičiūtė
doaj +3 more sources
The Keio Journal of MedicineTuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Qiang, Tong +2 more
+10 more sources
BMC Neurology, 2021 Background Subependymal giant cell astrocytoma (SEGA) is occasionally seen in tuberous sclerosis complex (TSC). Two main options are currently available for treating SEGA: surgical resection or pharmacotherapy using mammalian target of rapamycin ...
Kyoichi Tomoto +12 more
doaj +1 more source
Perfect match: mTOR inhibitors and tuberous sclerosis complex
Orphanet Journal of Rare Diseases, 2022 Highlights Hyperactivation of mammalian target of rapamycin (mTOR) is essential in the pathogenesis of tuberous sclerosis complex (TSC) and can serve as a therapeutic target. mTOR inhibitors have shown considerable success in multiple clinical trials for
Cong Luo +8 more
doaj +1 more source
NeuroImage: Clinical, 2022 Tuberous sclerosis complex is a rare genetic multisystem condition that is associated with a high prevalence of neurodevelopmental disorders such as autism and attention-deficit/hyperactivity disorder. The underlying neural mechanisms of the emergence of
Lucy D. Vanes +8 more
doaj +1 more source
Frontiers in Oncology, 2021 Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney.
Tetsuya Yamamoto +14 more
doaj +1 more source
Tuberous sclerosis complex: review based on new diagnostic criteria [PDF]
Anais Brasileiros de Dermatologia, 2018 : Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung.
Larissa Karine Leite Portocarrero +4 more
doaj +1 more source