Results 51 to 60 of about 345,131 (363)

"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]

, 2011
The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti, CASTALDO, Rosa, FERRETTI, ALESSANDRO, Filomena Ianniello, Francesco Chiarelli, PAOLINO, MARIA CHIARA, PARISI, Pasquale, VILLA, MARIA PIA   +7 more
core   +2 more sources

Clinical features, proximate causes, and consequences of active convulsive epilepsy in Africa. [PDF]

, 2013
PURPOSE: Epilepsy is common in sub-Saharan Africa (SSA), but the clinical features and consequences are poorly characterized. Most studies are hospital-based, and few studies have compared different ecological sites in SSA. We described active convulsive
Adjei, Patrick, Ae-Ngibise, Ken, Agbokey, Francis, Akpalu, Albert, Akpalu, Bright, Bauni, Evasius, Bottomley, Christian, Chabi, Martin, Chengo, Eddie, Collinson, Mark, Connor, Myles, Doku, Victor CK, Gómez Olivé, F Xavier, Kahn, Kathleen, Kakooza-Mwesige, Angelina, Kamuyu, Gathoni, Kariuki, Symon M, Kleinschmidt, Immo, Mageto, James O, Masanja, Honratio, Mathew, Alexander, Matuja, William, Ndyomughenyi, Donald, Neville, Brian GR, Newton, Charles RJC, Ngugi, Anthony K, Noh, John, Nutman, Thomas, Odera, Victor Mung'ala, Odermatt, Peter, Odhiambo, Rachael, Owusu-Agyei, Seth, Pariyo, George, Peterson, Stefan, Sander, Josemir W, SEEDS writing group, Tollman, Stephen, Twine, Rhian, Wagner, Ryan G, White, Steven, Wilkins, Patricia   +40 more
core   +1 more source

Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He, Jie Wu, Chaonan Fan, Zheng Li, Jun Liu, Kechun Li, Quan Wang, Suyun Qian   +7 more
wiley   +1 more source

Auras in patients with temporal lobe epilepsy and mesial temporal sclerosis. [PDF]

, 2016
We investigated auras in patients with drug-resistant temporal lobe epilepsy (TLE) and mesial temporal sclerosis (MTS). We also investigated the clinical differences between patients with MTS and abdominal auras and those with MTS and non-mesial temporal
Asadi-Pooya, Ali Akbar, Nei, Maromi, Sharan, Ashwini, Sperling, Michael R.   +3 more
core   +2 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Febrile Seizure Simulation

Journal of Education and Teaching in Emergency Medicine, 2017
Audience: This simulation session is appropriate for medical students, community physicians, or residents in emergency medicine, neurology, pediatrics, or family medicine.
Victor Cisneros, Alisa Wray
doaj   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Epilepsy in children with a history of febrile seizures [PDF]

Korean Journal of Pediatrics, 2016
PurposeFebrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict ...
Sang Hyun Lee, Jung Hye Byeon, Gun Ha Kim, Baik-Lin Eun, So-Hee Eun   +4 more
doaj   +1 more source

The Influence of Vaccine on Febrile Seizure

Current Neuropharmacology, 2017
Background: The protective value of vaccines to the public has made vaccines among the major public health prophylactic measures through the entire history.
Xin Li, Yang Lin, Gang Yao, Yicun Wang
semanticscholar   +1 more source

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, EarlyView.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source