Results 81 to 90 of about 29,392 (272)

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

Tuberous sclerosis complex: a case report

, 2017
Tuberous Sclerosis Complex is an autosomal dominant phakomatosis. This neurocutaneous disorder usually presents with seizures, facial angiofibroma and mental retardation (Vogt’s triad).
Vijayalekshmi, S., Sasidharan, Anjana, Poolakundan, Harris, Jenner, Feroz P., Kharim, Abdul   +4 more
core   +1 more source

Stereo‐electroencephalography–guided cross‐electrode radiofrequency thermocoagulation in focal epilepsy: A review of current methodologies and outcomes

Epilepsia, EarlyView.
Abstract Advances in stereo‐electroencephalography–guided radiofrequency thermocoagulation (SEEG‐guided RFTC) have led to the development of cross‐electrode RFTC, which has been shown to result in significantly larger lesions and higher seizure‐freedom rates compared to standard RFTC methods.
Bethany Campbell, Andrew Neal, Emily Cockle, Genevieve Rayner, Rubina Alpitsis, Eliza Blomfield, Terence J. O'Brien, Matthew Gutman, Joshua Laing, Martin Hunn, Alissandra McIlroy   +10 more
wiley   +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

BMC Medical Genetics, 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 ...
Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao   +7 more
doaj   +1 more source

WONOEP XVII appraisal: The role of the extracellular matrix in epilepsy

Epilepsia, EarlyView.
Abstract The extracellular matrix (ECM) is composed of proteoglycans and glycoproteins that regulate the external environment surrounding neurons, glia, and the vascular system. The ECM is vital for maintaining the structure and function of the brain and also acts as a reservoir for various signaling molecules and neurotransmitters, modulating synaptic
Eleonora Lugara, Erwin A. van Vliet, Alessia Romagnolo, Kevin Staley, Kyle P. Lillis, Chris Dulla, David C. Henshall, Katja Kobow   +7 more
wiley   +1 more source

Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex

, 2017
Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity.
Cárdenas, Pedro Luis, Ortiz Z., Alvaro I., Ortiz Z., AI, Peralta, M, Peralta, Marcela, Cárdenas, PL, Escaf, Luis C., Escaf, LC   +7 more
core   +1 more source

Gene burden meta‐analysis of 748 879 individuals identifies LGI1‐ADAM23 protein complex association with epilepsy

Epilepsia, EarlyView.
Abstract Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings.
Jessica Castrillon Lal, Costin Leu, Christian M. Boßelmann, Alina Ivaniuk, Eduardo Pérez‐Palma, Dennis Lal   +5 more
wiley   +1 more source

Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants

, 2021
Background: Tuberous Sclerosis Complex is an autosomal dominant multi-system disorder with an incidence of about 1 in 6000 live births. Defects in either TSC1 (* 605284) or TSC2 (* 191092) genes encoding the components of the Tuberous Sclerosis Complex ...
Selma Demir, Atli, Emine Ikbal, Karal, Yasemin, Engin Atlı, Eker, Damla, Yalcintepe, Sinem, Demir, Selma, Yalcin, Yelda, Emine İkbal Atlı, Damla Eker, Sinem Yalçıntepe, Yasemin Karal, Yelda Yalçın, Hakan Gürkan, Atli, Engin   +14 more
core   +1 more source

Epileptic encephalopathy with spike‐and‐wave activation in sleep associated with Tatton–Brown–Rahman syndrome responsive to highly purified cannabidiol

Epileptic Disorders, EarlyView.
Anita N. Datta
wiley   +1 more source

Diagnosis and management guidelines for infantile epileptic spasms syndrome around the world: A scoping review and comparative study of international approaches

Epilepsia, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) is an epileptic encephalopathy requiring rapid diagnosis and treatment to optimize neurodevelopmental outcomes. Although multiple national and regional guidelines exist, recommendations vary.
Gozde Erdemir, Chethan K. Rao, Anne Francine Pino, Christina Briscoe, Debopam Samanta, Jo M. Wilmshurst, Sonal Bhatia, Jessica L. Carpenter, Christina Hoei‐Hansen, Puneet Jain, Tommy Stodberg, Robyn Whitney, Ryuki Matsuura, Karina Rosso Astorga, Keryma Acevedo Gallinato, Pratibha Singhi, Aristides Hadijinicolaou, Gia Melikishvili, Patricia Smeyers, Nicola Specchio, Stéphane Auvin, Pediatric Epilepsy Research Consortium Infantile Spasm Work Group and International Committee   +21 more
wiley   +1 more source