Results 31 to 40 of about 50,774 (290)

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

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

Neural 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

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. [PDF]

, 2019
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC).
Beaure d'Augères, Guillaume, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Dahlin, Maria, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard   +29 more
core   +2 more sources

Cannabinoids in the treatment of epilepsy: current status and future prospects [PDF]

, 2020
Cannabidiol (CBD) is one of the prominent phytocannabinoids found in Cannabis sativa, differentiating from Δ9-tetrahydrocannabinol (THC) for its non-intoxicating profile and its antianxiety/antipsychotic effects.
Albini M., Cifelli P., Di Bonaventura C., Fanella M., Giallonardo A. T., Morano A., Palma E.   +6 more
core   +1 more source

Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]

, 2018
High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo, Fallah, Aria, Hussain, Shaun A, Nariai, Hiroki, Sankar, Raman, Wu, Joyce Y   +5 more
core   +1 more source

Tuberous sclerosis [PDF]

European Journal of Human Genetics, 2006
Tuberous sclerosis is a serious inherited disease which poses major challenges for affected families and those caring for them. Identification of the genes causing the condition and study of their protein products has shed light on the pathogenesis of the disease and provided valuable new information about signalling pathways regulating protein ...
openaire   +2 more sources

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

Indian 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, Vikas Kumar, Deba P. Kar, Shashi R. Prasad   +3 more
doaj   +1 more source

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

Frontiers 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, Taigo Kato, Koji Hatano, Atsunari Kawashima, Takeshi Ujike, Shinichiro Fukuhara, Hiroshi Kiuchi, Ryoichi Imamura, Naokazu Ibuki, Kazuma Kiyotani, Masako Kurashige, Eichi Morii, Kazutoshi Fujita, Norio Nonomura, Motohide Uemura   +14 more
doaj   +1 more source

Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures [PDF]

, 2018
ObjectiveThe present analysis examined the exposure-response relationship by means of the predose everolimus concentration (C-min) and the seizure response in patients with tuberous sclerosis complex-associated seizures in the EXIST-3 study ...
Brandt, Christian, Cheung, Wing, Coello, Neva, Franz, David N, French, Jacqueline A, Grosch, Kai, Kohrman, Michael H, Lawson, John A, Milh, Mathieu, Voi, Maurizio, Wiemer-Kruel, Adelheid, Wong, Michael, Yapici, Zuhal   +12 more
core   +2 more sources

Tuberous sclerosis: A novel approach to diagnosis

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2011
Tuberous sclerosis or tuberous sclerosis complex is a dominantly inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs.
P B Jahagirdar, R Eeraveni, S Ponnuraj, N Kamarthi   +3 more
doaj   +1 more source