Results 231 to 240 of about 241,099 (281)

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

Epileptic Disorders, EarlyView.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer, B. Johnsen, V. S. Hansen, E. Qerama, T. S. Engedal   +4 more
wiley   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou, Yu Wu, Guoran Li, Yongwen Qin, Man Qi, Zhitao Jin   +5 more
wiley   +1 more source

Maternal and umbilical cord plasma concentrations of antiseizure medications: Results from the observational MONEAD study

Epilepsia, EarlyView.
Abstract Objective Unanticipated changes in antiseizure medication (ASM) exposure can lead to subtherapeutic or toxic medication concentrations in the mother and unnecessary drug exposure for the fetus. The objectives of this study were to characterize ASM concentrations in mother's and cord blood at delivery in women with epilepsy (PWWE).
Charul Avachat, Kimford J. Meador, Page B. Pennell, Angela K. Birnbaum, MONEAD Investigator Group, Delmaris Acosta‐Cotte, Sandra Alhaj, Stephanie Allien, Taimur Anwar, Anto Bagic, Gregory L. Barkley, Donald Bearden, Susan Beers, Irena Bellinski, Christin Bermudez, Kristina Blessing, Katrina Boyer, Camilla Casadei, Patricia Chang, Li Chen, Andrea Cheng‐Hakimian, Melanie Choe, Kirsten Cleary, Tobi Clements, Joseph Coda, Pam Coe, Jules Constantinou, Yael Cukier Cukier, Danielle Culbreth, Elizabeth Cunningham, Kayla Darris, Lisa Davis, Rosemarie Delucca, Jennifer DeWolfe, Jessica Dimos, Mary Dolan, Maurice Druzin, Joyce Echo, Sarah Ellis, Pedro Figueredo, Richard Finnell, Kellie Flood‐Schaffer, Jacqueline French, Mark Friedman, Shailaja Gaddam, Satya Gedela, Elizabeth Garard, Christine Ghilian, William Grobman, Cheryl Hall, Ellen Hanson, Jacqueline Helcer Helcer, Paige Hickey, Gregory Holmes, Theresa Holmes, Dominic Ippolito, George Jewell, Arundhathi Jeyabalan, Emily Johnson, Michelle Kim, Gregory Krauss, Casey Krueger, David Labiner, Hadley Lange, Erin Latif, Connie Lau Lau, Shari Lawson, Brenda Leung, William MacAllister, James Maciulla, Hayley Madeiros, Nazin Mahmood, Jennie Mao, Ryan May, Paul McCabe, Frederick T. McElrath, Erica Meltzer Meltzer, Lucy Mendoza, Emily Miller, John W. Miller, Michelle Miranda, Jennifer Moon, Eugene Moore, Melissa Morris, Chris Morrison, Lorene Nelson, Melanee Newman, Alisha Olson, Kim Ono, John Owen, Alison Pack, Michael Paglia, Yong Park, Lamar Parker, Christina Patterson, Sonia Perez, Jenny Pohlman, Alison Pritchard, Michael Privitera, Krestin Radonovich, Patty Ray, Katie Reger, Gustavo Rey, Matthew Ryan, Yasin Salih, Carla Sandles, William Schweizer, Jordan Seliger, Enrique Serrano, Nilay Shah, Elizabeth Shashkova, Traci Sheer, Yvonne Sheldon, Rachel Sierra, Marianna Spanaki‐Varelas, Anna Steele, Jennifer Steele, Alice Stek, Zachary Stowe, Jolie Strauss, Suzanne Strickland, Melissa Sutcliffe, Hima Bindu Tam Tam, Diane Teagarden, Andrea Thomas, Matthew Thompson, Jeffery Tsai, Alexandra Urban, Linda Van Marter, Naymee Velez‐Ruiz, Yue Wang, Vibhangini Wasade, Taylor Weinau, Peter Wells, Carrie Wiles, Mark Yerby, Amy Young, Andrew Zillgitt, Annette Zygmunt   +138 more
wiley   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

Epilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli, Sebastian Ortiz, Tobias Brünger, Francesca Furia, Carmen Barba, Trine Bjørg‐Hammer, Ingo Borggraefe, Roberto Caraballo, Sebahattin Cirak, Alberto Espeche, Walid Fazeli, Renzo Guerrini, Matias Juanes, Karin Kassahn, Maria Kinali, Johannes Krämer, Judith Kröll, Maria Concepción Miranda Herrero, Renske Oegema, Katrin Ounap, Oscar Peñuela, Konrad Platzer, Asuri Narayan Prasad, Aurora Pujol, Karit Reinson, Alfonso Represa, Eugenia Roza, Gabriela Reyes Valenzuela, Agustí Rodríguez‐Palmero, Suzanne Sallevelt, Maria Iciar Sanchez‐Albiusa, Ingrid E. Scheffer, Cory Smid, Carl E. Stafstrom, Eva‐Lena Stattin, Jen R. Suarez, Steffen Syrbe, Kette D. Valente, Matias Wagner, Saskia Wortmann, Elena Gardella, Dennis Lal, Andreas Brunklaus, Rikke S. Møller   +43 more
wiley   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +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

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source