Channelopathies

12/01/2011 - "3 Tesla sodium inversion recovery magnetic resonance imaging allows for improved visualization of intracellular sodium content changes in muscular channelopathies."
01/01/2021 - "This study therefore not only describes the structure and pharmacology of a site that could be leveraged for the development of new drugs for the treatment of sodium channelopathies but may also have important implications for off-target health effects of this widely used therapeutic drug."
01/01/2015 - "Together, the results from this study demonstrate that the SCN5A(E558X/+) pig model accurately phenocopies many aspects of human cardiac sodium channelopathy, including conduction slowing and increased susceptibility to ventricular arrhythmias."
01/01/2012 - "The relationship between FD and sodium channelopathy should be elucidated in the future by a large-scale study."
12/01/2009 - "This study analyzed the clinical and mutational spectra of skeletal muscle sodium channelopathy in Korean subjects. "

01/01/2020 - "We identified only a few animal studies that focused on the mechanisms of ID in relation to potassium channelopathies and some of the few available therapeutic options (channel openers or blockers) appear to offer limited efficacy. "
01/01/2015 - "This commentary aims to highlight findings of this study in a broader context, and provides possible explanations for the discrepancy of patterns of axonal excitability changes in acquired and genetic potassium channelopathies. "
01/27/2014 - "In this study, we evaluated the effect of PKC-δ gene silencing using small interfering RNAs (siRNAs) on endothelial dysfunction and acquired potassium channelopathy in vascular SMCs in diabetes. "
07/17/2023 - "Potential Benefit of Channel Activators in Loss-of-Function Primary Potassium Channelopathies Causing Heredoataxia."
01/01/2023 - "Although potassium channelopathies have been linked to a wide range of neurological conditions, the underlying pathogenic mechanism is not always clear, and a systematic summary of clinical manifestation is absent. "

09/01/2016 - "In addition, this case suggests that acetazolamide may be an effective treatment for some aspects of the phenotype in a broader range of channelopathy-related conditions."
06/01/2019 - "Our patient responded well to acetazolamide (reduction in the frequency of attacks by about two thirds), supporting the hypothesis of a sodium channelopathy."
07/22/2022 - "This study also strengthens the beneficial effect of acetazolamide and sodium channel blockers in KCNA1 channelopathies."
04/01/2012 - "Use of acetazolamide in sulfonamide-allergic patients with neurologic channelopathies."
08/01/2005 - "It is responsive to acetazolamide and sensitive to the sodium content in the diet, many of the features of the channelopathies. "

01/01/2015 - "The understanding of mutations in ion-channel genes will lead to improved diagnosis and treatment of such inherited channelopathies. "
01/01/2023 - "Cumulatively, these studies demonstrate that HCN ion channels play a broad, evolutionarily conserved pacemaker role in both cardiac and smooth muscle organs and have implications for channelopathies as putative aetiologies of smooth muscle disorders. "
01/31/2021 - "Dysfunction of ion channels results in a group of disorders named channelopathies, which represent an extraordinary challenge for study and treatment. "
01/01/2020 - "Studies in patients with channelopathies have demonstrated the different effects of specific ion channel mutations on muscle excitability. "
01/01/2019 - "SIGNIFICANCE STATEMENT: Our data show for the first time that FlAsH-tagging of ion channels is a promising tool to study conformational changes after channel opening and may significantly advance the analysis of ion channel activation as well as their mutants involved in channelopathies."

05/01/2009 - "Nevertheless, anticonvulsants have been found to be extremely effective in treating PKD and are sometimes useful in other types, suggesting that these disorders may indeed represent forms of channelopathies. "
08/01/2023 - "This also indicates the importance of precise antiepileptic drug (AED) management and regular ECG monitoring for patients with channelopathies."
07/01/2003 - "The pathophysiology remains unknown; however, there is increasing evidence that channelopathies may play a role, which explains the response to anticonvulsant medications in certain kindreds. "
02/01/2009 - "The favorable natural history, the episodic nature of the symptoms and their sensitivity to anticonvulsant therapy suggest channelopathy as a mechanism of PKD. "
09/06/2005 - "The concept of channelopathies is in keeping with some characteristics of anorexia nervosa, such as a genetically-based predisposition to hypophagia, early onset, cardiac abnormalities, an appetite-enhancing efficacy of some antiepileptic drugs, and others. "

04/01/2007 - "With regards to therapy of channelopathies, experimental investigations of the intimate drug-channel interactions have demonstrated that channel mutations can either increase or decrease affinity for the drug, modifying its potential therapeutic effect. "
07/29/2010 - "To determine if acetazolamide, an effective treatment for certain inherited channelopathies, has therapeutic effects on infantile nystagmus syndrome (INS) in a well-studied subject, compare them to other therapies in the same subject and to tenotomy and reattachment (T&R) in other subjects. "
01/01/2019 - "This study helped in finding the binding interface between the receptor and ligand dataset for their potential therapeutic use in treating potassium channelopathies."
12/24/2020 - "This thematic review highlights the discovery of representative allosteric modulators for ligand-gated and voltage-gated ion channels, discussing in particular their identifications, locations, and therapeutic uses in the treatment of a range of channelopathies. "
01/01/2019 - "The high affinity and the overall selectivity to various types of ionic channels endowed scorpion toxins with a potential therapeutic effect against many channelopathies. "

12/01/2015 - "Long-term Safety and Efficacy of Mexiletine for Patients With Skeletal Muscle Channelopathies."
12/01/2013 - "Advances have been made in both the treatment and our understanding of the molecular pathophysiology of muscle channelopathies: (1) a recent controlled trial showed that mexiletine was effective for reducing symptoms and signs of myotonia in nondystrophic myotonia; (2) the mechanisms by which hypokalemic periodic paralysis leads to a depolarized but unexcitable sarcolemma membrane have been traced to a novel gating pore current; and (3) an association was demonstrated between mutations in a potassium inward rectifier and patients with thyrotoxic periodic paralysis. "

01/01/2018 - "Most symptoms improved with carbamazepine, consistent with an underlying cation channelopathy. "
08/07/2007 - "Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. "
11/01/2008 - "Findings propose that potassium ion channelopathy may underlie disease for a group of infants or young children displaying idiopathic megalencephaly and early onset epilepsy or episodic ataxia type 1. Carbamazepine's remarkable protective effects on the neuronal plasticity in the hyperexcitable state should be further studied, and maybe this drug should be considered more in treatment of temporal lobe epilepsy and megalencephaly."
06/01/2020 - "We hypothesize that Carbamazepine, as voltage-gate sodium channel blocker, aggravated the symptoms of hyperkalemic PP, as sodium channelopathies, in this young-male-patient, trough influence on membrane depolarization."
10/01/2023 - "First, phenobarbital should be the first-line ASM (evidence-based recommendation) regardless of etiology (expert agreement), unless channelopathy is likely the cause for seizures (e.g., due to family history), in which case phenytoin or carbamazepine should be used. "

01/01/2022 - "These findings demonstrate that the degree of baseline calcium elevation correlates with development of mixed phenotypes and sensitivity to pharmacologic channel inhibition, observations that will be critical for the design of future clinical trials for TRPV4 channelopathies."
01/01/2019 - "Our results provide a mechanistic rationale for the VDI deceleration caused by TS-associated mutations and suggest targets for further studies of calcium channelopathies."
11/05/2015 - "Our study further extends our knowledge of the link between calcium channelopathies and CAs. "
01/01/1998 - "The preliminary studies of the recently discovered calcium channelopathies are undergoing. "
02/24/2023 - "CACNA1S mutation-associated dental anomalies: A calcium channelopathy."

01/01/1998 - "Complementary studies are necessary to identify the precise implication of calcium channels in these auto-immune channelopathies."
01/01/2023 - "CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies."
01/01/2016 - "Indeed, it is confined within cell microdomains, and different calcium channels are associated with different functions, as shown by various channelopathies. "
07/01/2006 - "Here we document our current understanding of the mutations underlying channelopathies involving the voltage-gated calcium channel alpha subunits in humans and other species."
02/01/2002 - "Calcium channels and channelopathies of the central nervous system."

01/01/2020 - "Important advances in understanding the pathophysiological mechanisms underlying these channelopathies have helped to identify effective targeted therapies. "
10/01/2014 - "Advances in genetic, clinical, diagnostic and pathomechanistic understanding of skeletal muscle channelopathies are being translated into improved therapies. "
05/01/2018 - "This mini review focused on recent studies representing relevant forward steps in the field as well as noteworthy examples of how basic and clinical research can cooperate to gain insight into the pathophysiology of this renal channelopathy, paving the way for a personalized therapy."
03/01/2018 - "While earlier studies mainly enrolled younger patients with channelopathies, more recent reports included patients with "typical" indications for ICD therapy for the prevention of SCD. "
10/01/2016 - "Furthermore, it could be relevant to the study and therapy of any channelopathy.-Imbrici, P., Altamura, C., Camerino, G. "

08/01/2013 - "The aim of this study was to investigate the impact of HM on clinical management and outcome in patients with channelopathies and other arrhythmogenic diseases who received an implantable cardioverter defibrillator (ICD). "
08/01/2021 - "Anxiety and depression in inherited channelopathy patients with implantable cardioverter-defibrillators."
07/18/2021 - "Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators: A position statement of the Section of Sports Cardiology and Exercise from the European Association of Preventive Cardiology (EAPC) and the European Heart Rhythm Association (EHRA), both associations of the European Society of Cardiology."
01/01/2021 - "Part 2: ventricular arrhythmias, channelopathies, and implantable defibrillators."
12/01/2020 - "Evaluation of subcutaneous implantable cardioverter-defibrillator performance in patients with ion channelopathies from the EFFORTLESS cohort and comparison with a meta-analysis of transvenous ICD outcomes."

08/01/2021 - "Cardiac sympathetic denervation (CSD) is an effective procedure for the treatment of inherited channelopathies. "
01/01/2019 - "Cardiac Sympathetic Denervation in Channelopathies."
05/10/2023 - "The number of women of childbearing age who have been diagnosed in childhood with ion channelopathy and effectively treated using beta blockers, cardiac sympathectomy, and life-saving cardiac pacemakers/defibrillators is increasing. "
01/01/2016 - "Left cardiac sympathetic denervation (LCSD) provides an additive or potentially alternative treatment option for patients with life-threatening cardiac channelopathies/cardiomyopathies. "
01/01/2016 - "Quality of life after videoscopic left cardiac sympathetic denervation in patients with potentially life-threatening cardiac channelopathies/cardiomyopathies."

11/01/2015 - "A genotype-specific approach to pharmacotherapy requires a thorough understanding of the molecular-cellular basis of arrhythmogenesis in cardiac ion channelopathies as well as the specific drug profile. "
11/01/2015 - "Role of pharmacotherapy in cardiac ion channelopathies."
07/01/2009 - "The genetics and molecular mechanisms of these diseases provide insight into the mechanisms of more common channelopathies, and may dictate special therapeutic approaches with respect to drug therapy and risk stratification."
07/01/2009 - "A genotype-specific approach to pharmacotherapy requires a thorough understanding of the molecular-cellular basis of arrhythmogenesis in cardiac ion channelopathies as well as the specific drug profile."
07/01/2009 - "Role of pharmacotherapy in cardiac ion channelopathies."

02/02/2023 - "Children with complex CHD or other risk factors (for example, pacemakers, cardioverter-defibrillators, channelopathies) may, however, need specific individualized training programs. "
05/10/2023 - "The number of women of childbearing age who have been diagnosed in childhood with ion channelopathy and effectively treated using beta blockers, cardiac sympathectomy, and life-saving cardiac pacemakers/defibrillators is increasing. "
04/15/2016 - "Many channelopathy (principally Brugada, CPVT) & cardiomyopathy (mainly HCM) patients receive primary or secondary prevention therapy with an implantable cardiac defibrillator (ICD). "
12/01/2014 - "Ventricular tachycardia is a very uncommon arrhythmia in children usually related to channelopathies; in this setting beta-blockers are often the first-choice treatment, but in many selected patients implantation of a cardioverter-defibrillator is required. "
10/01/2016 - "The primary and secondary prevention of sudden cardiac death resulting from malignant arrhythmia, channelopathy, and hypertrophic cardiomyopathy often requires the implantation of automatic internal cardiac defibrillators (AICDs) in the pediatric population. "