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Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Ultra-low friction graphene oxide in the Atotsugawa Fault System. [PDF]

open access: yesNat Commun
Shimada T   +5 more
europepmc   +1 more source

Fault Detection Approach of Cyclotron Ion Sources Based on KPCA-ISSA-SVM. [PDF]

open access: yesSensors (Basel)
Li Y   +6 more
europepmc   +1 more source
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Fault identification for robot manipulators

IEEE Transactions on Robotics, 2005
Several factors must be considered for robotic task execution in the presence of a fault, including: detection, identification, and accommodation for the fault. In this paper, a nonlinear observer is used to identify a class of actuator faults once the fault has been detected by some other method.
Warren E Dixon, I D Walker
exaly   +2 more sources

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