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
An open source ultrasonic anemometer for the spatially distributed and time synchronized measurement of large scale flow fields. [PDF]
Weise TS, Braukmann JN, Hartmann P.
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
High-Fidelity Weak Signal Extraction for Coiled Tubing Acoustic Telemetry via Micro-Lever Suspension and Joint Denoising. [PDF]
Xie Y +5 more
europepmc +1 more source
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang +8 more
wiley +1 more source
Neuromorphic photonic computing with an electro-optic analog memory. [PDF]
Lam S +7 more
europepmc +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
Repurposing Si CMOS nonidealities for stochastic and analog image processing. [PDF]
Kwak B +11 more
europepmc +1 more source
Fabrication of High-Density Multimodal Neural Probes Based on Heterogeneously Integrated CMOS. [PDF]
Mun JH +10 more
europepmc +1 more source
Piezoelectric surface acoustic wave memristor neural network. [PDF]
Zhang Y +16 more
europepmc +1 more source

