Results 201 to 210 of about 216,322 (317)

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

A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel. [PDF]

Int J Neonatal Screen
Greed L, Pitt J, Greaves RF, Coleman K, Crisp G, Ranieri E, de Hora M, Webster D, Heather N, Human Genetics Society of Australasia Newborn Screening Committee.   +9 more
europepmc   +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

Video‐based diagnostics supported by artificial intelligence as an opportunity to address the epilepsy diagnostic gap: A narrative review

Epilepsia, EarlyView.
Abstract Despite advancements in epilepsy care, a substantial diagnostic gap persists, particularly in resource‐limited settings. This narrative review explores the potential of video‐based diagnostics augmented by artificial intelligence (AI) to address this gap by enabling earlier and more accessible seizure detection and classification.
Gadi Miron, Robert Terziev, Maximilian Schöls, John McLaren, Tobias Loddenkemper, Jörg Wellmer, Sigrid Mues, Christian Meisel   +7 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

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Predicting seizure freedom in the postpartum period: Findings from the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to evaluate whether seizure freedom in pregnancy predicts seizure freedom in the postpartum period in women with epilepsy (WWE). Prior studies have shown that seizure freedom prior to conception strongly predicts seizure freedom during pregnancy.
Emma C. Osterhaus, Wesley T. Kerr, Kimford J. Meador, Jacqueline A. French, Angela K. Birnbaum, P. Emanuela Voinescu, Elizabeth Gerard, Page B. Pennell   +7 more
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

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

Timing is everything: The effect of early‐life seizures on developing neuronal circuits subserving spatial memory

Epilepsia Open, EarlyView.
Abstract Spatial memory, the aspect of memory involving encoding and retrieval of information regarding one's environment and spatial orientation, is a complex biological function incorporating multiple neuronal networks. Hippocampus‐dependent spatial memory is not innate and emerges during development in both humans and rodents.
Gregory L. Holmes
wiley   +1 more source