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
Artificial Intelligence in Healthcare Administration and Clinical Informatics: A Critical Review and Governance Roadmap. [PDF]
Aldosari H.
europepmc +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Recommendations for HLA Genotyping Data Standards and Clinical Laboratory Staffing Considerations. [PDF]
Spierings E +9 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
Health system strategies and responses to the effects of Climate Change in Sub-Saharan Africa: A scoping review. [PDF]
Chimatiro CS +3 more
europepmc +1 more source
Why sycophantic LLMs may imperil interactive norms between humans. [PDF]
Gu R, Chen Z, Peng M, Liu C, Lin Z.
europepmc +1 more source
Healthcare Information Management and Accreditation in Europe. [PDF]
Ilinca R +6 more
europepmc +1 more source
Realizing Landau levels with open equifrequency contours around band singularities. [PDF]
Lu C +9 more
europepmc +1 more source

