Results 71 to 80 of about 43,008 (246)

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness [PDF]

, 2018
BACKGROUND: Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications.
Belousova, E, Benedik, MP, Carter, T, Cottin, V, Curatolo, P, D' Amato, L, d'Augères, GB, Dahlin, M, de Vries, PJ, Ferreira, JC, Feucht, M, Fladrowski, C, Hertzberg, C, Jansen, AC, Jozwiak, S, Kingswood, JC, Lawson, JA, Macaya, A, Marques, R, Nabbout, R, O'Callaghan, F, Qin, J, Sander, V, Sauter, M, Shah, S, Takahashi, Y, TOSCA Consortium and TOSCA Investigators, Touraine, R, Youroukos, S, Zonnenberg, B   +29 more
core   +1 more source

Freedon study: Real‐life outcomes of cenobamate in different lines of treatment

Epilepsia, EarlyView.
Abstract Objectives Cenobamate is an antiseizure medication (ASM) with proven effectiveness in individuals with highly refractory epilepsy. This study investigated the effectiveness and tolerability of cenobamate in different treatment lines and a less refractory setting. Methods This was a multicenter, retrospective, observational study.
Vicente Villanueva, José María Serratosa, Alejandro Fernández‐Cabrera, Manuel Toledo, Beatriz González‐Giráldez, José C. Estevez, Juan Jesús Rodríguez Uranga, Maria Machio Castelló, Maria Dolores Castro‐Vilanova, Juan José Poza, Xiana Rodríguez‐Osorio, Kevin G. Hampel, Elena Fonseca, Francisco Javier López‐González, Mercedes Garcés, Laura Abraira, Jordi Ciurans, Daniel Campos‐Fernández, Estevo Santamarina, Juan María Sanchez‐Caro, Lucas Iacampo, Julia Renau, Miguel Ángel García‐Quesada, Carla Anciones, María Isabel Chamorro, Iratxe Maestro, Pablo Cabezudo, Raquel Calle, Jesús Macarron, Beatriz Cabezas, María Carrasco, María López, Marta Marín, Rosa Querol, Belén Baena, Vanessa García‐Morales, Samuel López‐Maza, Álvaro Juiz, Blanca Mercedes‐Alvarez, Carla Amarante, Ana del Villar, Ascensión Castillo, Marta Rubio‐Roy, Javier Martinez‐Poles, Asier Gómez‐Ibáñez, Beatriz Parejo‐Carbonell, Anabelén Martínez Garcia, Ignacio Carrera, Pablo Iriarte, Fátima Romero‐Aguilera, on behalf of the Pharmacological Therapy Working group of the Spanish Epilepsy Society and Freedon Group   +50 more
wiley   +1 more source

Insulin‐like growth factor 1 receptor correlates with verbal memory in ILAE type 2 hippocampal sclerosis

Epilepsia, EarlyView.
Abstract Objective Long‐term memory deficits are often seen in patients with temporal lobe epilepsy (TLE). Recently, studies showed that patients with hippocampal sclerosis (HS) type 2, which presents with severe neuron loss in CA1 only, performed within the normal range. However, up to 30% of HS type 2 cases have memory deficits.
Henrique Cruz, Amauri Batista de Oliveira‐Júnior, André Fernando Garcia Cortez, Ricardo Lutzky Saute, Ricardo Silva Centeno, Joao Norberto Stávale, Mirian Salvadori Bittar Guaranha, Elza Marcia Targas Yacubian, Esper Abrão Cavalheiro, Joao Pereira Leite, Jose Eduardo Peixoto‐Santos   +10 more
wiley   +1 more source

Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate

Stem Cell Research & Therapy
Background Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue Li   +7 more
doaj   +1 more source

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. [PDF]

, 2019
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder characterized by benign tumors in multiple organs, including the skin, brain, kidneys, and lungs and occasional malignant tumors.
Adriaensen, Amin, Bissler, Black, Bombardieri, Breckenridge, Capal, Crino, Curatolo, Curatolo, Curatolo, Curatolo, De Vries, Franz, French, Jansen, Jansen, Johnson, Jóźwiak, Jóźwiak, Jóźwiak, Kingswood, Kingswood, Kingswood, Koenig, Krueger, Northrup, O'Callaghan, Roth, Sampson, Shepherd, Whitney, Wu   +32 more
core   +5 more sources

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

Epilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing, Lirong Han, Dongjun Guo, Thomas J. Foutz, Michael Wong   +4 more
wiley   +1 more source

Challenges in the management of a case of tuberous sclerosis

Industrial Psychiatry Journal, 2012
Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi, Manjeet Singh Bhatia, Anurag Jhanjee   +2 more
doaj   +1 more source

Decoding epilepsy's molecular blueprint: Machine learning unravels transcriptomic subtypes and regulatory networks

Epilepsia, EarlyView.
Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng, Yu Ma, Wanwan Hou, Haibo Li, Yuanfeng Zhou, Rui Zhao, Hao Li, Lian Chen, Yangyang Ma, Li Jin, Yi Wang, Yu An   +11 more
wiley   +1 more source

Mental health impacts experienced by caregivers of people with Dravet syndrome: A systematic literature review

Epilepsia, EarlyView.
Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk, Mary Anne Meskis, Galia Wilson, Bobby Jacob, Christoph Helmstaedter, Jane von Gaudecker, Veronica Hood, Ceri Hughes, Michael Scott Perry   +8 more
wiley   +1 more source

Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report

Journal of Medical Case Reports, 2012
Introduction The majority of multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis complex is diagnosed with the classical clinical triad of seizures, mental retardation, and skin lesions.
Ishii Makoto, Asano Koichiro, Kamiishi Nobufumi, Hayashi Yuichiro, Arai Daisuke, Haraguchi Mizuha, Sugiura Hiroaki, Naoki Katsuhiko, Tasaka Sadatomo, Soejima Kenzo, Sayama Koichi, Betsuyaku Tomoko   +11 more
doaj   +1 more source