Results 121 to 130 of about 284,386 (244)
Characterizing chapeau de gendarme in pediatric epilepsy through systematic video‐EEG evaluation
Epilepsia, EarlyView.Abstract Objective Chapeau de gendarme (CdG) is a subtle but clinically relevant semiology that has been scarcely studied in children. Previous studies have primarily focused on its localizing value in small, surgical cohorts. This study aimed to systematically characterize frequency and clinical features of CdG across the pediatric age spectrum ...
Hanna Barbara Brinkmann +5 more
wiley +1 more source
Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]
Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
فیضی, ایرج +10 more
core
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli +12 more
wiley +1 more source
The centenary of the discovery of trench fever, an emerging infectious disease of World War 1. [PDF]
Lancet Infect Dis, 2016 Anstead GM.
europepmc +1 more source
Epilepsia, EarlyView.Abstract Objective This study was undertaken to identify the incidence of respiratory tract infections (RTIs) in a large cohort of adult patients with status epilepticus (SE) and to characterize their associations with clinical features and outcome determinants.
Sebastian Berger +8 more
wiley +1 more source
Neurobartonelloses: emerging from obscurity!
Parasites & VectorsBackground Bartonella species are fastidious, intracellular bacteria responsible for an expanding array of human pathologies. Most are considered to be transmitted by direct inoculation with infected bodily fluids from a mammalian reservoir species or ...
Janice C. Bush +3 more
doaj +1 more source
Epilepsia, EarlyView.Abstract The classification of the epilepsies has traditionally relied on clinical and electroencephalographic features. However, advancements in molecular genetics, neuroimaging, and our understanding of epilepsy pathophysiology necessitate a shift toward an etiology‐based approach.
Nicola Specchio +15 more
wiley +1 more source
Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman +11 more
wiley +1 more source
Epilepsia Open, EarlyView.Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro +4 more
wiley +1 more source