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
Factorization norms and an inverse theorem for MaxCut. [PDF]
Balla I, Hambardzumyan L, Tomon I.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Query-Efficient Hard-Label Attack: A Prior-Guided Adam Ray Search Optimization. [PDF]
Ding T, Xu X, Xuan Q, Yu H, Ma C.
europepmc +1 more source
Psychological Determinants of Purchasing Behavior Among Individuals Indifferent to Reduced-Salt Products. [PDF]
Akamatsu Y +3 more
europepmc +1 more source
MAF-Net: Multimodal cross-attention-based fusion network for cardiovascular disease classification. [PDF]
Qu C, Zhang X, Lu Y, Wang Y, Su C.
europepmc +1 more source
Promoting healthier food purchases via social media: the role of polls and their visual features. [PDF]
Bläuer L +3 more
europepmc +1 more source
Nanopore-m<sup>6</sup>A-finder, a novel m<sup>6</sup>A site caller for Nanopore DRS data. [PDF]
Yang Y, Yu L, Mo L, Qi C, Song W, Jin H.
europepmc +1 more source
Active inference as a model of collision avoidance behavior in human drivers. [PDF]
Schumann JF +6 more
europepmc +1 more source

