Results 91 to 100 of about 27,034 (184)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Reproductive medicine care in BRCA mutation carriers: an opportunity for early intervention. [PDF]

F S Rep
Esencan E, Goldman KN.
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

On ARGs, pedigrees, and genetic relatedness matrices. [PDF]

Genetics
Lehmann B, Lee H, Anderson-Trocmé L, Kelleher J, Gorjanc G, Ralph PL.   +5 more
europepmc   +1 more source

Hybrid Osprey‐Salp Swarm Optimization Algorithm for Single and Multiobjective Optimal Power Flow in Smart Grids With Renewable Energy Integration

Energy Science &Engineering, EarlyView.
The proposed hybrid osprey‐salp swarm optimization algorithm addresses optimal power flow (OPF) problems in smart grids incorporating solar, hydro, and thermal generators. The algorithm is validated on Institute of Electrical and Electronics Engineers 30‐, 57‐, and 118‐bus test systems across five single and multiobjective OPF scenarios.
Mujtaba Ali, Muhammad Yaqoob Javed, Aamer Bilal Asghar, Gang Xiong, Krzysztof Ejsmont, Xiaoli Liu   +5 more
wiley   +1 more source

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]

Front Neurosci
Manjunath U, R V, Kulkarni SS, Reddy HN, Anil A, Mishra RK, Iyer GR.   +6 more
europepmc   +1 more source

Stability Evaluation and Parametric Optimization of Coal‐Concrete Composite Bearing Systems Under Mine‐Water‐Induced Deterioration: Experiments and FEINN Analysis

Energy Science &Engineering, EarlyView.
Mine‐water immersion tests reveal pronounced coal weakening (vs. minor concrete degradation), identifying coal pillars as the stability‐limiting component in composite dams. A coupled FEINN framework quantifies extreme‐pressure stability and ranks multi‐parameter designs via a normalized multi‐indicator scheme, enabling optimized dam configuration for ...
He Wen, Hongchuan Dai, Guixin Zhang, Pengzhe Li, Tong Yang, Cang Gong, Renbo Gao   +6 more
wiley   +1 more source

Mosaic Li Fraumeni Syndrome Not Identified in Germinal Tissue. [PDF]

Mol Genet Genomic Med
Urban RM, Kanwar N, Holdren MA, Hoenig MF, Rust LM, Wick MJ, Ferber MJ, Niu Z, Gupta S, Shen W.   +9 more
europepmc   +1 more source

Exercising electrocardiograms from Thoroughbred racehorses with exercise associated sudden death

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise associated sudden death (EASD), defined as a fatal collapse in a closely monitored and previously presumed clinically healthy horse that occurs during exercise or within approximately 1 h after exercise, is disproportionately more common in equine than in human athletes.
Cristobal Navas de Solis, M. Durando, L. Nath, S. Durward‐Akhurst   +3 more
wiley   +1 more source

ATP6V1B1-Associated Inherited Distal Renal Tubular Acidosis in Children: Insights from a Literature Review. [PDF]

Children (Basel)
Bot Rachisan AL, Colceriu MC, Jecan-Toader D, Bulata B, Delean D, Sparchez M.   +5 more
europepmc   +1 more source