Results 21 to 30 of about 358,265 (351)

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

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

Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex

JAMA Neurology, 2020
Key Points Question Is add-on cannabidiol superior to placebo in reducing the number of seizures associated with tuberous sclerosis complex? Findings In this randomized clinical trial, 224 patients with tuberous sclerosis complex were treated with ...
E. Thiele, E. Bebin, H. Bhathal, F. Jansen, K. Kotulska, J. Lawson, F. O'callaghan, M. Wong, F. Sahebkar, D. Checketts, V. Knappertz, J. Archer, Daniel H. Arndt, Todd F. Barron, E. Bebin, H. Bhathal, V. Cantarín-Extremera, R. Sánchez-Carpintero, Michael Ciliberto, Hannah R Cock, M. D. de Wit, O. Devinsky, M. Falip, F. Filloux, N. Fountain, J. Gawłowicz, R. Greenwood, K. Hamandi, F. Jansen, Charuta N. Joshi, S. Jóźwiak, P. Klein, K. Kotulska, Patrick S L Kwan, J. Lawson, P. Lisewski, Ian O. Miller, R. Morse, Ali S. Mostajelean, Danielle A Nolan, T. O'Brien, F. O'callaghan, F. Paredes, M. Perry, Federico J. Ramos, D. Reutens, Colin M. Roberts, R. Saneto, G. Sharp, Anurag Saxena, S. Sparagana, Priyamvada Tatachar, E. Thiele, J. Wheless, E. Wirrell, M. Wong, Michael Wong, Joyce Y. Wu, M. Żołnowska   +58 more
semanticscholar   +1 more source

Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex

Frontiers in Medicine, 2020
Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC.
Tohru Okanishi, Tohru Okanishi, Ayataka Fujimoto, Ayataka Fujimoto, Hideo Enoki, Masaaki Ogai, Masaaki Ogai   +6 more
doaj   +1 more source

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial

Annals of Neurology, 2020
Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the natural history of epilepsy has been proposed.
K. Kotulska, D. Kwiatkowski, P. Curatolo, B. Weschke, K. Riney, F. Jansen, M. Feucht, P. Krsek, R. Nabbout, A. Jansen, K. Wojdan, K. Sijko, Jagoda Głowacka-Walas, J. Borkowska, K. Sadowski, D. Domanska-Pakiela, R. Moavero, C. Hertzberg, H. Hulshof, T. Scholl, Barbora Benova, E. Aronica, Jessie De Ridder, L. Lagae, S. Jóźwiak   +24 more
semanticscholar   +1 more source

Tuberous Sclerosis Complex [PDF]

Seminars in Pediatric Neurology, 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, Moyano, Elisabeth Gómez, de Castro Almeida, Ana Raquel, Pilar, Leandro Martínez   +3 more
openaire   +5 more sources

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

Orphanet Journal of Rare Diseases, 2020
Objective This review will summarize current knowledge on the burden of illness (BOI) in tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with hamartomas throughout the body, including mainly the kidneys, brain, skin, eyes ...
J. Zöllner, D. Franz, C. Hertzberg, R. Nabbout, F. Rosenow, M. Sauter, S. Schubert-Bast, A. Wiemer-Kruel, A. Strzelczyk   +8 more
semanticscholar   +1 more source

White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex

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, Charlotte Tye, Jacques-Donald Tournier, Anna J.E. Combes, Elizabeth Shephard, Holan Liang, Gareth J. Barker, Chiara Nosarti, Patrick Bolton   +8 more
doaj   +1 more source

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report [PDF]

, 2018
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, which cause tuberous sclerosis ...
Bottillo, I, Han, Y, Lang, Y, Liu, X, Shao, L., Wang, J, Wang, Q, Zhang, R   +7 more
core   +2 more sources

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

, 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