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Ion channelopathies in endocrinology: recent genetic findings and pathophysiological insights
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11-01)
Ion channels serve diverse cellular functions, mainly in cell signal transduction. In endocrine cells, these channels play a major role in hormonal secretion, Ca2+-mediated cell signaling, transepithelial transport, cell ...
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
(2020-01)
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ...
Sepsis-Induced Channelopathy in Skeletal Muscles is Associated with Expression of Non-Selective Channels
(2018)
Skeletal muscles (similar to 50% of the body weight) are affected during acute and late sepsis and represent one sepsis associate organ dysfunction. Cell membrane changes have been proposed to result from a channelopathy ...
Arrhythmias and COVID-19: A review
Current understanding of the impact of COVID-19 on arrhythmias continues to evolve as new
data emerges. Cardiac arrhythmias are more common in critically ill COVID-19 patients. The
potential mechanisms that could result ...
Is neuralgia a transcriptional channelopathy?
Neuralgia, is a symptom of some neurological disorders and can be found at any age. It is characterized by paroxysmal and lancinating pain that follows the path of the affected nerve. It can be spontaneous or may be triggered ...
Epilepsy-related voltage-gated sodium channelopathies : a review
(Frontiers, 2020-08-18)
A genética das epilepsiasThe genetics of epilepsies
(Sociedade Brasileira de Pediatria, 2008)
Sepsis induced channelopathy in skeletal muscles is associated with expression of non selective channels
(Lippincott Williams & Wilkins, 2018)
Skeletal muscles (similar to 50% of the body weight) are affected during acute and late sepsis and represent one sepsis associate organ dysfunction. Cell membrane changes have been proposed to result from a channelopathy ...
Aspectos genéticos y moleculares de las enfermedades miotónicas
(Revista de Neurología 38 (7) p 668-674, 2004)
Aim. The aim is to review the molecular and genetic aspects of the dystrophic and no-dystrophic myotonias. Background.
Myotonic diseases are hereditary conditions of the skeletal muscle, classified in two groups depending ...