Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]
, 2011 Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode +22 more
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Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
, 2013 Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
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Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]
, 1989 The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter +2 more
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Frontiers in Pediatrics, 2022 Introduction Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) is the most common periodic fever syndrome in the pediatric population, yet its pathogenesis is unknown.
Tamar Veres +9 more
semanticscholar +1 more source
Genetic neurological channelopathies: molecular genetics and clinical phenotypes [PDF]
, 2015 Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact ...
Hanna, MG, Kullmann, DM, Spillane, J
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Adynamia episodica hereditaria with myotonia: A non-inactivating sodium current and the effect of extracellular pH [PDF]
, 1987 To study the mechanism of periodic paralysis, we investigated the properties of intact muscle fibers biopsied from a patient who had adynamia episodica hereditaria with electromyographic signs of myotonia.
Aickin +37 more
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Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]
, 2000 Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
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Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A [PDF]
, 2011 Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia.
Bouhours +16 more
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Chest pain and paralysis after pulse prednisolone therapy an unusual case presentation of thyrotoxic periodic paralysis: a case report [PDF]
, 2009 Thyrotoxic periodic paralysis is a disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. Thyrotoxic periodic paralysis is a common complication of hyperthyroidism in Asian populations, but can affect other ...
Dietrich, Wenke +4 more
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Anesthetic Management in Familial Hyperkalemic Periodic Paralysis: A Case Report
Cureus, 2021 Hyperkalemic periodic paralysis (HyperPP) is the rarer of two forms of potassium-associated familial paralysis characterized by episodic flaccid weakness secondary to an increase in serum potassium.
Ali Atoot +3 more
semanticscholar +1 more source