Results 31 to 40 of about 347,356 (359)

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

open access: yes, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

Cellular antiseizure mechanisms of everolimus in pediatric tuberous sclerosis complex, cortical dysplasia, and non-mTOR-mediated etiologies. [PDF]

open access: yes, 2018
The present study was designed to examine the potential cellular antiseizure mechanisms of everolimus, a mechanistic target of rapamycin (mTOR) pathway blocker, in pediatric epilepsy cases. Cortical tissue samples obtained from pediatric patients (n 
Barry, Joshua   +8 more
core   +2 more sources

Genomic and Pathological Characterization of Multiple Renal Cell Carcinoma Regions in Patient With Tuberous Sclerosis Complex: A Case Report

open access: yesFrontiers 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

Predictors of seizure outcomes in children with tuberous sclerosis complex and intractable epilepsy undergoing resective epilepsy surgery: an individual participant data meta-analysis. [PDF]

open access: yes, 2013
ObjectiveTo perform a systematic review and individual participant data meta-analysis to identify preoperative factors associated with a good seizure outcome in children with Tuberous Sclerosis Complex undergoing resective epilepsy surgery.Data ...
Banfield, Laura   +15 more
core   +2 more sources

Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

open access: yesNeural Plasticity, 2012
Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin), and clinical trials for tuberous sclerosis complex (TSC), neurofibromatosis-1 (NF1)
Tanjala T. Gipson, Michael V. Johnston
doaj   +1 more source

Tuberous Sclerosis Complex in a 17-month-old: A Case Report

open access: yesJournal of Nepal Medical Association, 2023
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C.   +5 more
doaj   +1 more source

Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: A rare case report

open access: yesIndian Heart Journal, 2013
A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain   +3 more
doaj   +1 more source

A rare case of tuberous sclerosis complex-associated renal cell carcinoma

open access: yesSouth African Journal of Radiology, 2022
Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga   +5 more
doaj   +1 more source

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor [PDF]

open access: yes, 2015
Medulloblastoma is the most common pediatric brain tumor. We describe a child with tuberous sclerosis complex that developed a Group 3, myc overexpressed, metastatic medulloblastoma (MB).
Carai, Andrea   +14 more
core   +1 more source

TUBEROUS SCLEROSIS [PDF]

open access: yesArchives of Neurology And Psychiatry, 1922
n ...
openaire   +2 more sources

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