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Showing 1 to 5 of 5 for “"Periodic paralysis"”.

  1. Voltage-Gated Sodium Channel Activity in Mouse Skeletal Muscle Fibers: Normal Gating and Defects Associated with Periodic Paralysis Mutants

    … phenotypes - NaV1.4-M1592V in hyperkalemic periodic paralysis (HyperPP) and NaV1.4-R663H (homolog of human R669H) in hypokalemic periodic paralysis (HypoPP) - were characterized with voltage-clamp recordings in fully differentiated fibers from knock-in mutant mice. The NaV1.4-M1592V mutation …

    utswmed Repository record for Voltage-Gated Sodium Channel Activity in Mouse Skeletal Muscle Fibers: Normal Gating and Defects Associated with Periodic Paralysis Mutants (opens in a new tab)

  2. Understanding Potassium Homeostasis Using Human and Mouse Genetic Models

    … models of human potassium disorders, hypokalemic periodic paralysis (hypoPP) and pseudohypoaldosteronism type II (PHA2). Patients with hypoPP are characterized with ictal hypokalemia and muscle paralysis. HypoPP can be divided into familial and non-familial forms. Recent studies have revealed the …

    utswmed Repository record for Understanding Potassium Homeostasis Using Human and Mouse Genetic Models (opens in a new tab)

  3. Slow Inactivation of Sodium Channels: Structural Clues and Disease Associations

    … are known to underlie certain forms of myotonia, periodic paralysis, epilepsy, and cardiac arrhythmias. The mechanism of slow inactivation and its relevance to human disease, on the other hand, are much less understood. The primary aim of this thesis was to characterize the mechanism of sodium …

    utswmed Repository record for Slow Inactivation of Sodium Channels: Structural Clues and Disease Associations (opens in a new tab)

  4. The Roles of Focal Adhesion Assembly in Membrane Localization of Ion Channels and Action Potential Shape

    … syndrome, a congenital disease characterized by periodic paralysis and polymorphic tachycardias. Such electrophysiological changes in the heart are often associated with profound alterations in cardiomyocyte size and shape, extracellular matrix (ECM), as well as cytoskeletal tension. …

    duke Repository record for The Roles of Focal Adhesion Assembly in Membrane Localization of Ion Channels and Action Potential Shape (opens in a new tab)