Results 131 to 140 of about 51,683 (162)

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

“Not Lower Class, Lazy Class”: Food Loathing as Class Abjection and Distinction via Instagram Comments on Mama J. Rae's Lunchbox‐Packing Video

Journal of Sociolinguistics, EarlyView.
ABSTRACT This article examines 4206 Instagram comments on a lunchbox‐packing video posted by Mama J. Rae, who self‐identifies as a “lower middle class wife.” Her excessive use of processed foods and sugary beverages provokes negative responses, many of which explicitly connect her lunchbox‐packing practices to class identity.
Hanwool Choe
wiley   +1 more source

BRAIN GROWTH, MENTAL AND COGNITIVE DEVELOPMENTCAN BE INFLUENCED BY SEVERE EPILEPTIC ACTIVITYDURING EARLY INFANCY

Zdravniški Vestnik, 2008
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj  

Time–frequency characteristics of scalp high‐frequency oscillations provide complementary biomarkers in infantile epileptic spasms syndrome

Experimental Physiology, EarlyView.
Abstract Infantile epileptic spasms syndrome (IESS) is characterized by epileptic spasms (ES) in infants and hypsarrhythmia on EEG. High‐frequency oscillations (HFOs), defined as oscillatory events at >80 Hz, reflect rapid spatiotemporal dynamics of cortical activity and might serve as novel biomarkers for epilepsy.
Shunta Yamaguchi, Keisuke Maeda, Naoko Ishihara, Gen Furukawa, Himari Tsuboi, Keisuke Osakabe, Keiko Sugimoto, Naohiro Ichino   +7 more
wiley   +1 more source

Infantile Epileptic Spasms Syndrome Complicating Mosaic Down‐Turner Syndrome: A Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Severe baseline developmental delays in complex genetic syndromes like Down‐Turner mosaicism can completely mask the psychomotor regression of Infantile Epileptic Spasms Syndrome (IESS). Clinicians must maintain a high index of suspicion and prioritize early video‐EEG screening for any abnormal paroxysmal movements.
Mohammad Shahrori, Khadeeja Nofal, Hasan H. Alkhawaja, Waed Mohsen, Ainaa A. Alzamari   +4 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, Volume 67, Issue 9, Page 4907-4921, September 2026.
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, Volume 67, Issue 9, Page 4600-4617, September 2026.
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 Hadjinicolaou, 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, Volume 67, Issue 9, Page 4551-4560, September 2026.
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

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

Epilepsia, Volume 67, Issue 9, Page 4631-4648, September 2026.
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

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, Volume 67, Issue 9, Page 4922-4938, September 2026.
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