Results 91 to 100 of about 104,844 (248)
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta +10 more
wiley +1 more source
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
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 +12 more
wiley +1 more source
Abstract Objective Dravet syndrome (DS) is a rare early‐onset developmental and epileptic encephalopathy with persistent delays between seizure onset and diagnosis. The DS'coverED study aimed to characterize current diagnostic timelines by examining each step and its duration, identifying residual barriers, and actionable solutions to optimize the ...
Loucas Christodoulou +9 more
wiley +1 more source
La sequenza in ambito bolognese nel secolo XI: il caso 'Angelica 123'
Eun Ju Kim
doaj +1 more source
Abstract Background Tissue Doppler imaging (TDI) may improve the assessment of myocardial function in neonatal foals. Objectives To document the feasibility of left ventricular pulsed wave (PW) TDI, inter‐ and intra‐observer variability and wave pattern over the first 5 days of life. Study Design Prospective observational study.
Fernanda Timbó D'el Rey Dantas +8 more
wiley +1 more source
Exact Computation of the Color Function for Triangular Element Interfaces
We propose a robust algorithm, the Front2VOF algorithm, to compute the color function for triangular element interfaces in Front‐Tracking methods on a Cartesian mesh. ABSTRACT The calculation of the volume enclosed by curved surfaces discretized into triangular elements and a cube is of great importance in different domains, such as computer graphics ...
Jieyun Pan +8 more
wiley +1 more source

