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
Lost in documentation: professional norms and the gaps in survey translation transparency. [PDF]
Sadeghzadeh M, Nouhi Jadesi N.
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
When resources run short: the inhibitory effect of economic scarcity on third-party punishment. [PDF]
Liang H, Li J.
europepmc +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Enhancing the Short Physical Performance Battery: Proposing Norm Values for the 4-Meter Walking Test for Multimorbid Older Adults. [PDF]
Labott BK +3 more
europepmc +1 more source
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
Health-related quality of life and lifetime QALY loss among Indigenous Australians with chronic conditions: an age-stratified analysis. [PDF]
Haque R +7 more
europepmc +1 more source
What drives people to play pickleball? A mixed-methods study using SEM and fsQCA. [PDF]
Huang W, Xiao D, Cheng B.
europepmc +1 more source
Recent progress in the promotion and protection of human rights of older persons. [PDF]
de Mendonça Lima CA, Rabheru K.
europepmc +1 more source

