Results 71 to 80 of about 9,877 (241)

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 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

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

Factors associated with rapid pediatric acute seizure emergency treatment: Quality Improvement in Time to Treat Status Epilepticus baseline cohort

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) treatment is more effective when benzodiazepines (BZDs) are given soon after SE diagnosis. The Quality Improvement in Time to Treat Status Epilepticus (QuITT‐SE) trial is a multicenter, randomized, stepped‐wedge effectiveness‐implementation hybrid study aimed at improving time to SE treatment.
Adam P. Ostendorf, Gabrielle Brown‐Mitchell, Tobias Loddenkemper, Lindsey A. Morgan, Brian Appavu, Raquel Farias‐Moeller, Dana Harrar, Craig Press, Janette Mailo, Nicholas S. Abend, William D. Gaillard, Shasha Bai, Mariah Eisner, Emily Kroshus, Kathryn Vannatta, Howard P. Goodkin, on behalf of the QuITT‐SE Study Group, Karen Allen, Megan Fredwall, Allison Nelson, Megan Rose, Corinne McCabe, Hannah Lehmann, Jared Haught, Lauren McHenry, William Korab, Amanda Courtney, Angela Turner, Coral Crandell, Sophie Rotter‐Aboyoun, Zoe Munsey, Mikaela Morales, Jacqueline Lee‐Eng, Sahar Rostamian, Elijah Simon, Luisa Fernanda Atunes Ortega, Alyssa Chen, Kristin Reid, Heather Kennedy, Courtney Englehardt, Jensen Kuchrawy, Abigail Howe, Nora Reilly, Lora Pixley, Amy Liljestrand, Annalee Antonetty, Agnieszka Kielian, Jennifer Gettings, Lillian Voke, Shannon Manzi, Lauren Fleser, Jeffrey Bolton, Madeline Chiujdea, Deborah Shiers, Michele Jackson, Stephanie Dailey, Lynn McDaniel, Jared Barkes, Brittany Dunn, Laure Cromwell, Irene Kelly, Kimberlee Meegan, Anne Vasiliadis, Julia S. Keenan, Sarah Vepraskas, Ronda Werner, Kimberly Zimmanck, Rupa Nallamothu, Sarah Otterson, Kaley Marrari, Lalaine Dungca, Nigel Negm, Sarah Kiel, Chris Kennie‐Richardson, Ariel Hierhozer, Katherine Dyer, Meera Singavi, Molly Green, Nate Evans, Caitlin Keiter, Jessica Johnson, Sara Molisani, Darshana Parikh, Veronica Zielinkski, Rachael Huber, Brody Giblin, Allix Edsill, Jessica Zook   +87 more
wiley   +1 more source

Genetic causes of infantile spasms

, 2012
Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be
Ousager, Lilian Bomme; id_orcid, Møller, Rikke Steensbjerre; id_orcid, Kjærsgaard Hansen, Lars, Hjalgrim, Helle, Uldall, Peter Vilhelm   +4 more
core   +1 more source

SUDEP and mortality in developmental and epileptic encephalopathies: A meta‐analysis of randomized clinical trials and extension studies

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro, Maria Sole Borioni, Adolfo Mazzeo, Enrico Cocchi, Carlo Di Bonaventura, Emanuele Cerulli Irelli   +5 more
wiley   +1 more source

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil

Jornal de Pediatria
Objective: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil.
Marília Barbosa de Matos, Paulo Breno Noronha Liberalesso, Tiago dos Santos Bara, Paula Carolina Martins Alves Gomes, Bianca Simone Zeigelboim, Jair Mendes Marques, Mara L. Cordeiro   +6 more
doaj   +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

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis

Orphanet Journal of Rare Diseases, 2018
Background Infantile spasms represent the catastrophic, age-specific seizure type associated with acute and long-term neurological morbidity. However, due to rarity and heterogenous determination, there is persistent uncertainty of its pathophysiological
Jason L. Jia, Shiyi Chen, Vishalini Sivarajah, Derek Stephens, Miguel A. Cortez   +4 more
doaj   +1 more source