Results 111 to 120 of about 1,345,791 (312)

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

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

Maternal risk factors associated with the birth of preterm infants in the West of Iran: a matched case-control study

BMC Pregnancy and Childbirth
Background Preterm birth is one of the global most common causes of mortality among infants, especially in developing countries. Therefore, the present study was conducted to determine the maternal risk factors related to the birth of preterm infants ...
Leila Jafarpour, Nasrin Galehdar, Yaser Mokhayeri, Kowsar Qaderi, Mahmood Fakhri   +4 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Behavioral state and the premature’s readiness performance to begin oral feeding

Revista CEFAC
Objective: to evaluate the influence of behavioral states on the readiness of the premature infant to initiate breastfeeding. Methods: the study was transversal, observational and descriptive with 51 premature infants, attended at the Neonatal Intensive
Cristina Ide Fujinaga, Sabrina Maltauro, Suzelaine Taize Stadler, Eleidiele Rosa Cheffer, Sidelisa Aguiar, Nelma Ellen Zamberlan Amorin, Cleomara Mocelin Salla   +6 more
doaj   +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

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
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

Keeping their powder dry: Purity, pollution, and handgun ownership among Jewish women in Israel

Feminist Anthropology, EarlyView.
Abstract This article examines the gendered practices through which Jewish women in Israel experience and negotiate personal handgun ownership in everyday life. Drawing on interviews, participant observation in gun‐related spaces, and analysis of women‐only online forums, we explore the expanding participation of Jewish women in civilian gun ownership,
Maya Maor, Nehemia Stern, Guy Nagar, Uzi Ben Shalom   +3 more
wiley   +1 more source

Patterned progression of bacterial populations in the premature infant gut

Proceedings of the National Academy of Sciences of the United States of America, 2014
Patricio S. La Rosa, B. Warner, Yanjiao Zhou, G. Weinstock, E. Sodergren, C. Hall-Moore, Harold J. Stevens, W. Bennett, N. Shaikh, Laura A. Linneman, J. Hoffmann, A. Hamvas, E. Deych, Berkley A. Shands, W. Shannon, P. Tarr   +15 more
semanticscholar   +1 more source