Results 1 to 10 of about 16,843 (240)
Korean Journal of Pediatrics, 2014 Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles.
June-Bum Kim
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Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics [PDF]
BiomedicinesVoltage-gated sodium channels (VGSCs) play pivotal roles in cellular function, particularly in the regulation of electrical signaling. Structural defects in these channels cause deleterious effects in a myriad of cell types, leading to various diseases ...
Angela Gyamfi +4 more
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Polyunsaturated Phospholipids Increase Cell Resilience to Mechanical Constraints
Cells, 2021 If polyunsaturated fatty acids (PUFAs) are generally accepted to be good for health, the mechanisms of their bona fide benefits still remain elusive. Membrane phospholipids (PLs) of the cardiovascular system and skeletal muscles are particularly enriched
Linette Kadri +7 more
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Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns
Life, 2021 Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a critical issue as
Inn-Chi Lee
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New Nonsense Variant c.2983G>T; p.Glu995* in the Gene Causes Progressive Autosomal Dominant Ataxia [PDF]
Journal of Movement Disorders, 2021 The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA).
Yannic Saathoff +3 more
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Fayixue Zazhi, 2022 Hereditary cardiac disease accounts for a large proportion of sudden cardiac death （SCD） in young adults. Hereditary cardiac disease can be divided into hereditary structural heart disease and channelopathies.
DONG Yi-ming +3 more
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Intellectual Disability and Potassium Channelopathies: A Systematic Review
Frontiers in Genetics, 2020 Intellectual disability (ID) manifests prior to adulthood as severe limitations to intellectual function and adaptive behavior. The role of potassium channelopathies in ID is poorly understood.
Miriam Kessi +17 more
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Frontiers in Cardiovascular Medicine, 2023 Cardiovascular diseases are associated with several morbidities and are the most common cause of worldwide disease-related fatalities. Studies show that treatment and outcome-related differences for cardiovascular diseases disproportionately affect ...
Sahil Zaveri +9 more
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Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]
, 2020 Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo +5 more
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Vulnerability of Human Cerebellar Neurons to Degeneration in Ataxia-Causing Channelopathies
Frontiers in Systems Neuroscience, 2022 Mutations in ion channel genes underlie a number of human neurological diseases. Historically, human mutations in ion channel genes, the so-called channelopathies, have been identified to cause episodic disorders.
David D. Bushart, Vikram G. Shakkottai
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