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
Solvent Effects on the Photophysical Properties of Unexplored Imidazo[1,2‑<i>a</i>]pyridine Derivatives. [PDF]
Justino Garcia Praciano VH +4 more
europepmc +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +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
Dynamics of driven dissipative temporal solitons in an intracavity phase trap. [PDF]
Englebert N +4 more
europepmc +1 more source
Information Security with Smart Hydrogels: Photo-Patterning and Multi-Stimuli Responsive Structural Color. [PDF]
Guo X +7 more
europepmc +1 more source
Burstein-Moss-Driven Exciton Dynamics in Degenerately Doped ZnO Quantum Dots. [PDF]
Singh M +6 more
europepmc +1 more source
Theoretical insights into the stability and nature of nonconventional C-H⋯Y (Y[double bond, length as m-dash]N, P, As, Sb) hydrogen bonds in haloform-pnictogen trihydride complexes. [PDF]
Pham KN, Anh Thu DT, Ai BD, Trung NT.
europepmc +1 more source
Heavy-metal free near infrared photoredox catalysts in cancer phototherapy. [PDF]
Khatun MN +6 more
europepmc +1 more source
Photoswitching behaviour of quinoline-substituted bicyclooctadienes and the role of protonation.
Gueben PA +6 more
europepmc +1 more source

