Results 71 to 80 of about 62,352 (265)

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

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

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

Selenium deficiency and the effects of supplementation on preterm infants

Revista Paulista de Pediatria, 2014
Objective: This study aimed to review the literature about blood concentrations of selenium associated with gestational age, feeding, supplementation and related clinical features in preterm infants.
Renata Germano B. O. N. Freitas, Roberto Jose N. Nogueira, Maria Angela R. G. M. Antonio, Antonio de Azevedo Barros-Filho, Gabriel Hessel   +4 more
doaj   +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

A Five-Year Study of Maternal and Neonatal Risk Factors Contributing to Early Neonatal Death at a Tertiary Referral Hospital

Obgynia
Objective: This study aims to explore maternal and neonatal risk factors associated with early neonatal death at a central referral hospital in West Java. Methods: A cross-sectional study was conducted.
Putri Nadya Syahidah, Setyorini Irianti, Windi Nurdiawan   +2 more
doaj   +1 more source

Microvillus Inclusion Disease Associated with Necrotizing Enterocolitis in a Premature Infant

American Journal of Perinatology Reports, 2014
Microvillus inclusion disease is one of the congenital diarrheal disorders characterized by the appearance of inclusion bodies on the intestinal epithelium. To date there are a few cases and also a few other associated finding reports related to this life-threatening disease in literature.
Islek, Ali, Kalay, Salih, Kalay, Zuhal, ARTAN, REHA, Tezel, Gonul, YILMAZ, AYGEN, Sayar, Ersin, ELPEK, GÜLSÜM ÖZLEM, Oztekin, Osman   +8 more
openaire   +4 more sources

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Incidence of metabolic bone disease in neonates under 32 gestational weeks at the Hospital Universitario de Santander in Colombia

Biomédica: revista del Instituto Nacional de Salud
Introduction. Metabolic bone disease of premature infants is a rare complication characterized by a lower mineral content in bone tissue. Objective. To establish the incidence of metabolic bone disease in premature infants and to determine associated ...
Erika Ruiz, Diego Ernesto Piamonte, Deisy Tatiana Gómez, Luis Alfonso Díaz, Luis Alfonso Pérez   +4 more
doaj   +1 more source