Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Synthesis of La-Fe<sub>3</sub>O<sub>4</sub>@polydopamine core-shell magnetic composites for enhanced phosphate removal from aqueous solutions. [PDF]
Cheng X +5 more
europepmc +1 more source
Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
Initial collection of training material
The document will outline the initial training plan that will be delivered during the project and will provide a first set of training contents about the CSCALE ...
openaire +1 more source
Time-dependent bond strength development and pH dynamics of conventional and self-adhesive resin cements for lithium disilicate restorations. [PDF]
Kim M, Lee J, Kim R, Hayashi M.
europepmc +1 more source
ABSTRACT Objective Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...
Annahita Sedghi +8 more
wiley +1 more source
Material and Topology Optimization of Composite Bone Plate to Reduce the Stress Shielding Effect. [PDF]
Szymkiewicz K.
europepmc +1 more source
Initial study on natural fibers for use in concrete mixes as a sustainable materials alternative
Nicolás Hidalgo Robayo +5 more
openalex +2 more sources
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Scaling laws for rockfall impact fragmentation emerging from diverse lithologies. [PDF]
Vergara Á, Palma S, Fuentes R.
europepmc +1 more source

