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
Evolution Mechanism of Volume Parameters and Gradation Optimization Method for Asphalt Mixtures Based on Dual-Domain Fractal Theory. [PDF]
Hu B, Qian Z, Zhang F, Zhang Y.
europepmc +1 more source
Low Incidence of Relapses After Vaccination in Anti‐Aquaporin‐4 Antibody‐Positive NMOSD
ABSTRACT Patients with neuromyelitis optica spectrum disorder (NMOSD) may experience increased signs and symptoms of their underlying disease when vaccinated against meningococcal disease before receiving complement component 5 inhibitor therapies. This retrospective analysis indicated an overall low relapse incidence (mean [range], 3.3% [0.7%–10.6 ...
Sean J. Pittock +4 more
wiley +1 more source
Sustainable Cold Mix Asphalt: A Comprehensive Review of Mechanical Innovations, Circular Economy Integration, Field Performance, and Decarbonization Pathways. [PDF]
Malik MD, Chen Y, Mu J, Dong R.
europepmc +1 more source
Objective This study aims to develop hip morphology‐based radiographic hip osteoarthritis (RHOA) risk prediction models and investigates the added predictive value of hip morphology measurements and the generalizability to different populations. Methods We combined data from nine prospective cohort studies participating in the Worldwide Collaboration ...
Myrthe A. van den Berg +26 more
wiley +1 more source
Returning aggregate research results to participants: a scoping review of current practices, preferences and challenges. [PDF]
Idnay B +5 more
europepmc +1 more source
Objectives There is growing interest in evaluating new strategies to delay or prevent post‐traumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury.
Kevin Kennedy +9 more
wiley +1 more source
Management of Cervical Root Resorption on the Palatal Aspect Using Combined Internal and External Surgical Approaches: A Case Report Study. [PDF]
Shafagh S, Bolbolian M, Zohdi M.
europepmc +1 more source
Objective To evaluate the efficacy and safety of baricitinib in pediatric patients with active juvenile idiopathic arthritis–associated uveitis (JIA‐U) or chronic anterior antinuclear antibody–positive uveitis, who had an inadequate response to methotrexate (MTX) or biologic disease‐modifying antirheumatic drugs (bDMARDs).
Athimalaipet V. Ramanan +7 more
wiley +1 more source
Customized positioning of the glenoid component in reverse shoulder arthroplasty: a new computer aided design methodology. [PDF]
Cirello A +8 more
europepmc +1 more source

