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
Flow Feature Aligned Mesh Generation and Adaptation [PDF]
Methods which allow for construction of flow feature aligned meshes in two- and three-dimensions have been developed in this thesis to investigate their potential for improvements in the numerical solution relative to globally refining the mesh.
Harris, Matthew
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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
Blade row interaction in radial turbomachines [PDF]
A computational study has been performed to investigate the effects of blade row interaction on the performance of radial turbomachines, which was motivated by the need to improve our understanding of the blade row interaction phenomena for further ...
Sato, K., Sato, Kenji
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Three-Dimensional Numerical Modeling of Macrosegregation in Continuously Cast Billets
Macrosegregation, serving as a major defect in billets, can severely degrade material homogeneity. Better understanding of the physical characteristics of macrosegregation through numerical simulation could significantly contribute to the segregation ...
Qipeng Dong +3 more
doaj +1 more source
Transient Three-Dimensional Flow Field Measurements by Means of 3D µPTV in Drying Poly(Vinyl Acetate)-Methanol Thin Films Subject to Short-Scale Marangoni Instabilities. [PDF]
Tönsmann M, Scharfer P, Schabel W.
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
Direct simulations and modelling of basic three-dimensional bifurcating tube flows
Three-dimensional bifurcating internal flow is studied for a single mother tube branching into two equal but diverging daughter tubes. The mother tube is straight and of circular cross-section, containing a fully developed incident motion, while the ...
Smith, FT, Tadjfar, M
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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
Analysis of flow in bifurcations through transverse and multigate Doppler ultrasound
Euromech Colloquium 286 on “Three dimensional blood flow in bifurcations. Computational and experimental analyses and clinical applications”, Kerkrade, The Netherlands, October 20-23 ...
PIGNOLI P. +4 more
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