Results 21 to 30 of about 347,356 (359)

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, Kate 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

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

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

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

Resective epilepsy surgery in tuberous sclerosis complex: a nationwide multicentre retrospective study from China.

Brain : a journal of neurology, 2020
At least 50% of patients with tuberous sclerosis complex present with intractable epilepsy; for these patients, resective surgery is a treatment option.
Shiyong Liu, Tao Yu, Y. Guan, Kai Zhang, P. Ding, Lei Chen, Y. Shan, Q. Guo, Qingzhu Liu, Yi Yao, Meihua Yang, Shaohui Zhang, Yuan-xiang Lin, R. Zhao, Zhiqi Mao, Juncheng Zhang, C. Zhang, Rui Zhang, Zhiquan Yang, R. Qian, Yunlin Li, Guangming Zhang, L. Yuan, Weidong Yang, Hong Tian, Hua Zhang, Wenling Li, Xinwei Zhang, Jian Yin, Yan-wu Guo, L. Zou, J. Qin, F. Fang, Xu Wang, M. Ge, Shu-li Liang   +35 more
semanticscholar   +1 more source

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   +1 more source

Tuberous Sclerosis Complex: A review of the past, present and future.

Turkish Journal of Medical Sciences, 2020
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be ...
S. Uysal, M. Sahin
semanticscholar   +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

The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC)

Frontiers in Neuroanatomy, 2020
Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development because the genes that cause TSC are known, many downstream molecular pathways have been identified, and the resulting perturbations of cellular events are ...
David M. Feliciano
semanticscholar   +1 more source

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

Frontiers in Neurology, 2020
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood.
N. Specchio, N. Pietrafusa, M. Trivisano, R. Moavero, L. de Palma, A. Ferretti, F. Vigevano, P. Curatolo   +7 more
semanticscholar   +1 more source