Results 91 to 100 of about 358,265 (351)

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

Multifocal angiomyolipoma involving kidney and regional lymph nodes in patient with tuberous sclerosis complex- A Rare case with review of literature

Asian Journal of Medical Sciences, 2015
Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
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

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Genetics and Molecular Biology, 2017
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor
C. Rosset, C. Netto, P. Ashton-Prolla
semanticscholar   +1 more source

Insulinlike 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

Tuberous Sclerosis Complex

The Keio Journal of Medicine
Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in
Rout P, Thomas A.
europepmc   +6 more sources

Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia.

JAMA Neurology, 2019
Importance Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders.
A. Liu, A. Staffaroni, Julio C Rojas-Martinez, Nicholas T Olney, Carolina Alquezar-Burillo, P. Ljubenkov, R. La Joie, Jamie C. Fong, Joanne B. Taylor, A. Karydas, E. Ramos, G. Coppola, A. Boxer, G. Rabinovici, B. Miller, A. Kao   +15 more
semanticscholar   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Profile of everolimus in the treatment of tuberous sclerosis complex: an evidence-based review of its place in therapy

Neuropsychiatric Disease and Treatment, 2016
Jamie K Capal, David Neal Franz Department of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA Abstract: Tuberous sclerosis complex (TSC) is a relatively rare genetic disorder, affecting one in 6,000 births ...
Capal J, Franz DN
doaj  

Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]

Journal of Cardio-Thoracic Medicine, 2015
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj