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Tuberous sclerosis

Radiopaedia.org, 2020
Mostafa El-Feky, Tarek Daoud
semanticscholar   +2 more sources

Tuberous Sclerosis [PDF]

Journal of the Royal Society of Medicine, 1991
Tuberous sclerosis (epiloia, Bourneville-Pringle syndrome) is an inherited disease with an autosomal pattern. Both sexes are affected equally with varied expression in successive generations. Two cases of this unusual disorder in siblings are reported. They illustrate heredofamilial nature, dissimilar expression, mutations, and oral manifestations.
H H, Tillman, F, De Caro
  +8 more sources

Impact of facial angiofibromas in tuberous sclerosis complex and reported efficacy of available treatments

Frontiers in Medicine, 2022
Tuberous Sclerosis Complex (TSC) is a genetic condition which leads to a loss of inhibition of cellular growth. Facial angiofibromas (FAs) are hamartomatous growths associated with TSC that appear as multiple small, erythematous papules on the skin of ...
Marie Monaghan, Pooja Takhar, Luke Langlands, Markus Knuf, Markus Knuf, Sam Amin   +5 more
doaj   +1 more source

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial

Annals of Neurology, 2023
This study was undertaken to test the hypothesis that early vigabatrin treatment in tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of age.
E. Bebin, Jurriaan M. Peters, Brenda E. Porter, Tarrant O. McPherson, S. O’Kelley, M. Sahin, Katherine S. Taub, R. Rajaraman, S. Randle, William M. McClintock, Mary Kay Koenig, Mike D. Frost, H. Northrup, Klaus Werner, Danielle A. Nolan, M. Wong, Jessica Krefting, F. Biasini, K. Peri, G. Cutter, D. Krueger   +20 more
semanticscholar   +1 more source

Experience using mTOR inhibitors for subependymal giant cell astrocytoma in tuberous sclerosis complex at a single facility

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, Ayataka Fujimoto, Chikanori Inenaga, Tohru Okanishi, Shin Imai, Masaaki Ogai, Akiko Fukunaga, Hidenori Nakamura, Keishiro Sato, Akira Obana, Takayuki Masui, Yoshifumi Arai, Hideo Enoki   +12 more
doaj   +1 more source

Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial

Epilepsia, 2021
To evaluate the long‐term safety and efficacy of add‐on cannabidiol (CBD) in patients with seizures associated with tuberous sclerosis complex (TSC) in the open‐label extension (OLE) of the randomized, placebo‐controlled phase 3 trial GWPCARE6 ...
E. Thiele, E. Bebin, F. Filloux, Patrick S L Kwan, Rachael Loftus, F. Sahebkar, S. Sparagana, J. Wheless   +7 more
semanticscholar   +1 more source

Shared decision-making and the caregiver experience in tuberous sclerosis complex: results from a UK survey

Orphanet Journal of Rare Diseases, 2023
Background Tuberous sclerosis complex (TSC) is a rare genetic condition commonly accompanied by neurological and neuropsychological disorders, resulting in a high burden of illness for individuals and a substantial impact on their caregivers.
Hanna Skrobanski, Kishan Vyas, Sally Bowditch, Lena Hubig, Edward Dziadulewicz, Louise Fish, Pooja Takhar, Siu Hing Lo   +7 more
doaj   +1 more source

Tuberous sclerosis

Dermatology Online Journal, 2008
A 46-year-old woman presented with multiple, skin-colored, hyperpigmented, dome-shaped facial papules. Histopathologic examination was consistent with angiofibromas. Clinical history and examination were consistent with tuberous sclerosis. The clinical manifestations, pathogenesis, evaluation, and treatment of tuberous sclerosis are discussed.
Wee, Sue Ann, Fangman, Bill
openaire   +5 more sources

Tuberous sclerosis with kidneys angiomyolipomas: a family case

Вестник урологии, 2023
Tuberous sclerosis is one of the forms of monogenic hereditary pathology related to neurocutaneous diseases (phacomatoses). Diagnostic difficulties are associated with pronounced clinical polymorphism and age-dependent onset of symptoms.
A. A. Keln, E. V. Semenova, O. L. Keln, M. S. Shvedskyi   +3 more
doaj   +1 more source

A companion to the preclinical common data elements and case report forms for neuropathology studies in epilepsy research. A report of the TASK3 WG2 Neuropathology Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force initiated the TASK3 working group to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Eleonora Aronica, Devin K. Binder, Meinrad Drexel, Chrysanthy Ikonomidou, Shilpa D. Kadam, Guenther Sperk, Christian Steinhäuser   +6 more
wiley   +1 more source