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
Minor salivary flow as a diagnostic tool for screening hyposalivation in Medication-Induced Xerostomia. [PDF]
Kumar SS +7 more
europepmc +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Estimation of the apparent anisotropic water diffusivity on spruce evaluated with a simplified derivative approach and as a function of the flow rate. [PDF]
Sánchez-Ferrer A, Engelhardt M.
europepmc +1 more source
ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh +8 more
wiley +1 more source
Generation Mechanism and Reynolds Number Regulation of Multi-Peak Oscillatory Concentration Gradients in Multi-Layer Vertical-Stepped Microchannels. [PDF]
Hu Z, Li M, Liu G, Jia X, Fan Z.
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
Murray Law-Based Quantitative Flow Ratio Proficiency in Clinical Practice: Validating Routine Diagnostic Performance and Analyzing Learning Curve Thresholds. [PDF]
Deng D +15 more
europepmc +1 more source
ABSTRACT Objective Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...
Annahita Sedghi +8 more
wiley +1 more source
Left ventricular blood flow kinetic energy by 4D flow magnetic resonance imaging in patients with acute myocardial infarction after revascularization. [PDF]
Liu MX +9 more
europepmc +1 more source

