Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex. [PDF]
, 2017 BACKGROUND: Facial angiofibromas affect most patients with tuberous sclerosis complex. They tend to progress, can cause recurrent bleeding and facial disfigurement, and have significant psychological effects. We reviewed the effectiveness and safety of
Amin, S, Khan, A, Lux, A, O'Callaghan, F
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New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
wiley +1 more source
Epitheloid Variant of Angiomyolipoma in a Patient with Tuberous Sclerosis. [PDF]
, 2013 Epitheloid angiomyolipoma of kidney is a type of Perivascular endothelial cell derived tumor with an aggressive behaviour with specific pathological, immunohistochemistrical and genetic characteristics.
Amirtham, U +4 more
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PLoS ONE, 2017 Objectives We examined the long-term effects of everolimus in patients with renal angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
J. Bissler +12 more
semanticscholar +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case [PDF]
Iranian Journal of Neurosurgery, 2022 Background and Importance:Tuberous sclerosis, also known as Bourneville's disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in ...
Tamajyoti Ghosh, Binoy Binoy K Singh
doaj
A clinical update on tuberous sclerosis complex‐associated neuropsychiatric disorders (TAND)
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018 Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which are often underdiagnosed and undertreated. Here, we present a clinical update on
P. D. de Vries +5 more
semanticscholar +1 more source
Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery
Epilepsia Open, EarlyView.Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields +4 more
wiley +1 more source
Mutation of the co-chaperone Tsc1 in bladder cancer diminishes Hsp90 acetylation and reduces drug sensitivity and selectivity [PDF]
, 2019 The molecular chaperone Heat shock protein 90 (Hsp90) is essential for the folding, stability, and activity of several drivers of oncogenesis. Hsp90 inhibitors are currently under clinical evaluation for cancer treatment, however their efficacy is ...
Backe, Sarah J +11 more
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Transition into adulthood: Tuberous sclerosis complex, S turge‐ W eber syndrome, and R asmussen encephalitis [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108590/1/epi12722 ...
Chugani, Harry T. +3 more
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