Results 111 to 120 of about 50,774 (290)

A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. [PDF]

, 2019
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. Due to
Auvin, S., Bissler, J.J., Cottin, V., Fujimoto, A., Hofbauer, G.F.L., Jansen, A.C., Jóźwiak, S., Kerecuk, L., Kingswood, J.C., Moavero, R., Torra, R., Universitat Autònoma de Barcelona, Villanueva, V.   +12 more
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Serum NfL, GFAP, and p‐tau217 in adults with drug‐resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury

Epilepsia, EarlyView.
Abstract Objective Adults with epilepsy and intellectual disabilities (IDs) may be at increased risk of dementia, but clinical evaluation is complex and use of conventional biomarkers is often considered too invasive. We explored abnormality of serum neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), and phosphorylated tau‐217 (p ...
Hadassa Kwetsie, Inge M. W. Verberk, Jans S. van Ool, Anneke J. J. Rampen, Rebecca Z. Rousset, Nicole I. Wolf, Dederieke A. M. Maes‐Festen, Clara D. M. van Karnebeek, Charlotte E. Teunissen, Erik Boot, Agnies M. van Eeghen   +10 more
wiley   +1 more source

Bilateral renal angiomyolipomas with invasion of the renal vein: A case report [PDF]

, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
Blick, C, Jones, A, Muneer, A, Ravindranath, N   +3 more
core   +3 more sources

The small molecule simufilam dose‐dependently attenuates the worsening of seizures in a mouse model of tuberous sclerosis complex

Epilepsia, EarlyView.
Abstract Objective Novel epilepsy treatments for patients with tuberous sclerosis complex (TSC) and focal cortical dysplasia type II (FCDII) are urgently needed. In these patients, mutations in the mechanistic target of rapamycin (mTOR) pathway genes lead to mTOR hyperactivity and focal cortical malformations that frequently cause intractable epilepsy ...
Branden Stansley, Md. Monirul Islam, Dean J. Aguiar, Zoë Fuchs, Mackenzie Catron, Stephen Morairty, Ying Yuan, Radleigh Santos, Jingguo Hou, Annelies de Kater, George B. Thornton, Angelique Bordey   +11 more
wiley   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

A consensus roadmap for post‐traumatic epilepsy: Clinical biomarkers, research priorities, policy barriers, and pathways to interventional trials

Epilepsia, EarlyView.
Abstract Understanding the mechanisms underlying post‐traumatic epilepsy (PTE) following traumatic brain injury (TBI), and developing strategies to prevent or modify its progression, has been the focus of large collaborative efforts within the epilepsy and TBI research communities for over a decade.
Elisa R. Zanier, Ilaria Lisi, Elaine K. O'Loughlin, Federico Moro, Edilberto Amorim, David L. Brody, Daniel J. Correa, Dominique Duncan, Pavel Klein, Firas H. Kobeissy, Wolfgang Löscher, Edward J. Needham, Asla Pitkänen, Mary Jo Pugh, Jack Somers, Annamaria Vezzani, Amy K. Wagner, Laura S. Lubbers, International Conference on PTE Attendees, Denes Agoston, Edilberto Amorim, Sneha Anand, Hibah Awwad, Ginevra Bayon, Naima Belhachemi, Akash Bera, Costanza Bertani, Guido Bertolini, David L. Brody, Serena Brusatori, Francesca Buffelli, Aurora Chiapperini, Mara Chioccola, Severn Churn, Daniel J. Correa, Ramon Diaz‐Arrastia, Chris Dulla, Dominique Duncan, Chiara Ferlito, Aristea Galanopoulou, Angela Galic, Heidi Matos Galicia, Bin Gu, William Haskins, Victoria Johnson, Nigel Jones, Lowie Joseph, Pavel Klein, Firas Kobaissy, Ilaria Lisi, David Loane, Luther Loose, Laura S. Lubbers, Wolfgang Löscher, Edoardo Mazzone, Melissa Miller, Federico Moro, Edward J. Needham, Irma Wati Ngadimon, Terence O’Brien, Elaine K. O’Loughlin, Asla Pitkanen, Mary Jo Pugh, Teresa Giovanna Ravizza, Giuseppe Remuzzi, Massimo Rizzi, Rossella Di Sapia, Tawfeeq Shekh‐Ahmad, Doug Smith, Jack Somers, Kevin Staley, Francesca Tribuzio, Alexandra Ulyanova, Gloria Vegliante, Annamaria Vezzani, Joost Wagenaar, Amy K. Wagner, Kevin W. Wang, Justin Weppner, Peter J. West, Karen Wilcox, John Wolf, Elisa R. Zanier   +82 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

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

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation [PDF]

, 1999
Tuberous sclerosis complex is an inherited tumour suppressor syndrome, caused by a mutation in either the TSC1 ...
Bakker, L. (Lida), Bakker, R. (Remco), Halley, D.J.J. (Dicky), Lindhout, D. (Dick), Nellist, M.D. (Mark), Ouweland, A.M.W. (Ans) van den, Slegtenhorst, M.A. (Marjon) van, Tempelaars, A.M.P. (Anita), Verhoef, S., Wang, Q. (Qing), Wessels, M.W. (Marja)   +10 more
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