Results 181 to 190 of about 175,990 (247)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

Epilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan, Beatrice Southby Goad, Meagan Allen, Jill Rodda, Kay L. Richards, Simone L. Ardern‐Holmes, Daniel Bamborschke, Daniel Fritzen, Inna Hughes, Kate Riney, Ana Roche Martinez, Angelo Russo, Adriane Sinclair, Stefano Sartori, Marina Trivisano, Angela De Dominicis, Nicola Specchio, Rikke S. Møller, Ingrid E. Scheffer, Walid Fazeli, Markus Wolff, Steven Petrou, Katherine B. Howell, Géza Berecki   +23 more
wiley   +1 more source

Prey preference and cell wall-mediated resistance shape predation efficiency in Saccharomycopsis schoenii. [PDF]

FEMS Yeast Res
Smith JR, Naidoo-Blassoples RK, Bauer FF.   +2 more
europepmc   +1 more source

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

Some novel optical pulses in hydrodynamical nonlinear complex equation using M-truncated fractional derivative. [PDF]

Sci Rep
Ilhan E, Rehman SU, Bilal M, Baskonus HM, Alawaideh YM.   +4 more
europepmc   +1 more source

Advances in Double‐Stranded DNA Targeting Technologies

Exploration, EarlyView.
Double‐stranded DNA (dsDNA) plays a crucial role in genetic information storage and disease management, but its inherent stability limits access to internal bases. To overcome this challenge, various high‐specificity molecular targeting technologies have been developed to destabilize the DNA structure.
Zuhao Shen, Yiqun Liu, Yingjie Hao, Yifan Bo, Xiaochuan Dai, Shihui Wang, Tian Xia, Xin Su, Huiyu Liu   +8 more
wiley   +1 more source

A hierarchical Bayesian inference model for volatile multivariate exponentially distributed signals. [PDF]

Front Comput Neurosci
Zhu C, Zhou K, Tang F, Tang Y, Li X, Si B.   +5 more
europepmc   +1 more source

A Fuzzy Framework for Realized Volatility Prediction: Empirical Evidence From Equity Markets

Journal of Forecasting, EarlyView.
ABSTRACT This study introduces a realized volatility fuzzy time series (RV‐FTS) model that applies a fuzzy c‐means clustering algorithm to estimate time‐varying c$$ c $$ latent volatility states and their corresponding membership degrees. These memberships are used to construct a fuzzified volatility estimate as a weighted average of cluster centroids.
Shafqat Iqbal, Štefan Lyócsa
wiley   +1 more source

Exact and parameterized algorithms for choosability. [PDF]

Acta Inform
Bliznets I, Nederlof J.
europepmc   +1 more source

Forecasting New Employment Using Nonrepresentative Online Job Advertisements With an Application to the Italian and EU Labor Market

Journal of Forecasting, EarlyView.
ABSTRACT Using online job advertisement data improves the timeliness and granularity depth of analysis in the labor market in domains not covered by official data. Specifically, its variation over time may be used as an anticipator of official employment variations.
Pietro Giorgio Lovaglio, Mario Mezzanzanica   +1 more
wiley   +1 more source

Joint Estimation of Paternity, Sibships and Pollen Dispersal in a Snapdragon Hybrid Zone. [PDF]

Mol Ecol
Ellis TJ, Field DL, Barton NH.
europepmc   +1 more source