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https://www.readbyqxmd.com/read/29142081/genetic-and-molecular-regulation-of-extrasynaptic-gaba-a-receptors-in-the-brain-therapeutic-insights-for-epilepsy
#1
Shu-Hui Chuang, Doodipala Samba Reddy
GABA-A receptors play a pivotal role in many brain diseases. Epilepsy is caused by acquired conditions and genetic defects in GABA receptor channels regulating neuronal excitability in the brain. The latter is referred to as GABA channelopathies. In the last two decades, major advances have been made in the genetics of epilepsy. The presence of specific GABAergic genetic abnormalities leading to some of the classical epileptic syndromes has been identified. Advances in molecular cloning and recombinant systems have helped characterize mutations in GABA-A receptor subunit genes in clinical neurology...
November 15, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29141819/autoimmune-aquaporin-4-induced-damage-beyond-the-central-nervous-system
#2
REVIEW
Dian He, Anni Zhang, Ya Li, Gang Cai, Yuan Li, Shipeng Guo
Initially, it was believed that Aquaporin-4 (AQP4)- immunoglobulin G (IgG) only affected the central nervous system (CNS), and peripheral AQP4-expressing organs were usually spared. However, in recent years, increasing evidence has demonstrated that AQP4-IgG causes damage to peripheral organs beyond the CNS such as skeletal muscle, vestibulocochlear nerves, gastrointestinal tract, blood system, kidney, lung and placenta. Recently, the term "autoimmune aquaporin-4 channelopathy" has been proposed to incorporate a wide range of diseases associated with AQP4-IgG, including neuromyelitis optica spectrum disorders and AQP4-IgG-induced peripheral nerves system damage...
November 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29138928/mechanisms-of-drug-binding-to-voltage-gated-sodium-channels
#3
M E O'Leary, M Chahine
Voltage-gated sodium (Na(+)) channels are expressed in virtually all electrically excitable tissues and are essential for muscle contraction and the conduction of impulses within the peripheral and central nervous systems. Genetic disorders that disrupt the function of these channels produce an array of Na(+) channelopathies resulting in neuronal impairment, chronic pain, neuromuscular pathologies, and cardiac arrhythmias. Because of their importance to the conduction of electrical signals, Na(+) channels are the target of a wide variety of local anesthetic, antiarrhythmic, anticonvulsant, and antidepressant drugs...
November 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29129644/role-of-kinase-coupled-trp-channels-in-mineral-homeostasis
#4
REVIEW
Vladimir Chubanov, Lorenz Mittermeier, Thomas Gudermann
Transient receptor potential (TRP) proteins TRPM6 and TRPM7 are α-kinase-coupled divalent cation-selective channels activated upon a reduction of cytosolic levels of Mg(2+) and Mg·ATP. Emerging evidence indicate that one of the main physiological functions of TRPM6 and TRPM7 is maintaining of cellular metabolism of Mg(2+) and likely other essential metals such as Ca(2+) and Zn(2+). Recent experiments with genetic animal models have shown that TRPM6 and TRPM7 are essential for epithelial Mg(2+) transport in the placenta and intestine...
November 9, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29129156/a-case-of-kcnq2-associated-movement-disorder-triggered-by-fever
#5
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29121758/tpeak-tend-dispersion-as-a-predictor-for-malignant-arrhythmia-events-in-patients-with-vasospastic-angina
#6
Wang Xianpei, Wu Sha, Gao Chuanyu, Yan Juanjuan, Chen Chong, Shi Yongen, Feng Yu, Lin Zhenhao
BACKGROUND: Tpeak-Tend interval (Tp-e interval) in electrocardiogram (ECG) has been reported to predict malignant arrhythmia events (MAE) in ST-segment elevation myocardial infarction and ion channelopathy. Tp-e interval and other ECG parameters as predictors for MAE was evaluated in patients with vasospastic angina (VA). METHODS AND RESULTS: Sixty-two patients with VA (Non-MAE group) and 20 patients with VA complicated by MAE (MAE group) were enrolled in our Division of Cardiology between January 2010 and December 2015...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29120016/the-subcutaneous-implantable-cardioverter-defibrillator-in-daily-clinical-practice
#7
Tardu Özkartal, Alexander Breitenstein, Ardan M Saguner, Devdas T Inderbitzin, Markus Wilhelm, Stefano Benussi, Francesco Maisano, Thomas F Lüscher, Frank Ruschitzka, Jan Steffel
INTRODUCTION: In Switzerland, the first implantation of a subcutaneous implantable cardioverter-defibrillator (S-ICD) took place in November 2012. Up until the end of 2016, a total of 111 S-ICDs have been implanted. The aim of this study was to summarise the experience of a tertiary centre in Switzerland and to discuss the results in the context of international registries. METHODS: All patients in whom an S-ICD was implanted between November 2012 and the end of December 2016 at the University Heart Centre Zurich were included in this study...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/29099038/massively-parallel-sequencing-of-genes-implicated-in-heritable-cardiac-disorders-a-strategy-for-a-small-diagnostic-laboratory
#8
Ivone U S Leong, Alexander Stuckey, Daniele Belluoccio, Vicky Fan, Jonathan R Skinner, Debra O Prosser, Donald R Love
Sudden cardiac death (SCD) in people before the age of 35 years is a devastating event for any family. The causes of SCD in the young can be broadly divided into two groups: heritable cardiac disorders that affect the heart structure (cardiomyopathies) and primary electrical disorders (cardiac ion channelopathies). Genetic testing is vital as those suffering from cardiac ion channelopathies have structurally normal hearts, and those with cardiomyopathies may only show subtle abnormalities in the heart and these signs may not be detected during an autopsy...
October 10, 2017: Medical Sciences: Open Access Journal
https://www.readbyqxmd.com/read/29093808/sanger-sequencing-as-a-first-line-approach-for-molecular-diagnosis-of-andersen-tawil-syndrome
#9
Armando Totomoch-Serra, Manlio F Marquez, David E Cervantes-Barragán
In 1977, Frederick Sanger developed a new method for DNA sequencing based on the chain termination method, now known as the Sanger sequencing method (SSM).  Recently, massive parallel sequencing, better known as next-generation sequencing (NGS),  is replacing the SSM for detecting mutations in cardiovascular diseases with a genetic background. The present opinion article wants to remark that "targeted" SSM is still effective as a first-line approach for the molecular diagnosis of some specific conditions, as is the case for Andersen-Tawil syndrome (ATS)...
2017: F1000Research
https://www.readbyqxmd.com/read/29088983/what-the-internist-should-know-about-hereditary-muscle-channelopathies
#10
Véronique Bissay, Sophie C H Van Malderen
OBJECTIVES: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options. RESULTS: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist...
October 31, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29080794/animal-toxins-for-channelopathy-treatment
#11
REVIEW
Sergey Kozlov
Ion channels are transmembrane proteins that allow passive flow of ions inside and/or outside of cells or cell organelles. Except mutations lead to nonfunctional protein production or abolished receptor entrance on the membrane surface an altered channel may have two principal conditions that can be corrected. The channel may conduct fewer ions through (loss-of-function mutations) or too many ions (gain-of-function mutations) compared to a normal channel. Toxins from animal venoms are specialised molecules that are generally oriented toward interactions with ion channels...
October 25, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29079902/structural-models-of-ligand-bound-sodium-channels
#12
Boris S Zhorov
X-ray and cryo-EM structures of tetrameric and pseudo-tetrameric P-loop channels are used to elaborate homology models of mammalian voltage-gated sodium channels with drugs and neurotoxins. Such models integrate experimental data, assist in planning new experiments, and may facilitate drug design. This chapter outlines sodium channel models with local anesthetics, anticonvulsants, and antiarrhythmics, which are used to manage pain and treat sodium channelopathies. Further summarized are sodium channel models with tetrodotoxin, mu-conotoxins, batrachotoxin, scorpion toxins, and insecticides...
September 14, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29079892/the-genetic-counselor-in-the-pediatric-arrhythmia-clinic-review-and-assessment-of-services
#13
Benjamin M Helm, Samantha L Freeze, Katherine G Spoonamore, Stephanie M Ware, Mark D Ayers, Adam C Kean
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic...
October 27, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29079713/a-common-mechanism-for-cftr-potentiators
#14
Han-I Yeh, Yoshiro Sohma, Katja Conrath, Tzyh-Chang Hwang
Cystic fibrosis (CF) is a channelopathy caused by loss-of-function mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a phosphorylation-activated and adenosine triphosphate (ATP)-gated chloride channel. In the past few years, high-throughput drug screening has successfully realized the first US Food and Drug Administration-approved therapy for CF, called ivacaftor (or VX-770). A more recent CFTR potentiator, GLPG1837 (N-(3-carbamoyl-5,5,7,7-tetramethyl-4,7-dihydro-5H-thieno[2,3-c]pyran-2-yl)-1H-pyrazole-3-carboxamide), has been shown to exhibit a higher efficacy than ivacaftor for the G551D mutation, yet the underlying mechanism of GLPG1837 remains unclear...
October 27, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/29067911/syncope-in-a-young-man-role-of-purkinje-fibres-in-idiopathic-ventricular-fibrillation
#15
Claire A Martin, Laurence Nunn, Pier D Lambiase
A young man suffered cardiac arrests with polymorphic ventricular tachycardia (PVT) and ventricular fibrillation (VF) triggered by ventricular premature contractions (PVCs). The arrhythmia was resistant to anti-arrhythmics, so after ICD implantation he underwent successful ablation of the triggering VE beat, which was pace-mapped to the left posterior hemi-fascicle. We review the evidence for the role of the Purkinje network in the initiation and maintenance of PVT and VF, postulating a channelopathy as a possible underlying cause, and provide recommendations for PVC ablation...
July 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29058196/in-vivo-analysis-of-potassium-channelopathies-loose-patch-recording-of-purkinje-cell-firing-in-living-awake-zebrafish
#16
Jui-Yi Hsieh, Diane M Papazian
Zebrafish is a lower vertebrate model organism that facilitates integrative analysis of the in vivo effects of potassium and other ion channel mutations at the molecular, cellular, developmental, circuit, systems, and behavioral levels of analysis. Here, we describe a method for extracellular, loose patch electrophysiological recording of electrical activity in cerebellar Purkinje cells in living, awake zebrafish, with the goal of investigating pathological mechanisms underlying channelopathies or other diseases that disrupt cerebellar function...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29056836/prevention-of-sudden-cardiac-death-in-children-and-young-adults
#17
Aapo L Aro, Sumeet S Chugh
In the present review, we summarize current approaches to the prevention of sudden cardiac death (SCD) in children and young adults, focusing on age less than 35 years. SCD in the young is rare, but devastating from the societal perspective. While coronary artery disease is the main etiology of SCD in the older age groups, conditions such as cardiomyopathies and electrical channelopathies are more likely to be found in the young. In the majority of younger cases, cardiac arrest can be the first recognized manifestation of the underlying cardiac pathology, although some have experienced cardiovascular symptoms prior to the SCD...
June 2017: Progress in Pediatric Cardiology
https://www.readbyqxmd.com/read/29048771/catecholaminergic-polymorphic-ventricular-tachycardia-an-update
#18
REVIEW
Andrés R Pérez-Riera, Raimundo Barbosa-Barros, Marianne P C de Rezende Barbosa, Rodrigo Daminello-Raimundo, Augusto A de Lucca, Luiz C de Abreu
Catecholaminergic polymorphic ventricular tachycardia is a rare devastating lethal inherited disorder or sporadic cardiac ion channelopathy characterized by unexplained syncopal episodes, and/or sudden cardiac death (SCD), aborted SCD (ASCD), or sudden cardiac arrest (SCA) observed in children, adolescents, and young adults without structural heart disease, consequence of adrenergically mediated arrhythmias: exercise-induced, by acute emotional stress, atrial pacing, or β-stimulant infusion, even when the electrocardiogram is normal...
October 19, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29037745/genetics-update-monogenetics-polygene-disorders-and-the-quest-for-modifying-genes
#19
REVIEW
Joseph D Symonds, Sameer M Zuberi
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions...
October 13, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29032884/the-genetics-underlying-idiopathic-ventricular-fibrillation-a-special-role-for-catecholaminergic-polymorphic-ventricular-tachycardia
#20
Jaakko T Leinonen, Lia Crotti, Aurora Djupsjöbacka, Silvia Castelletti, Nella Junna, Alice Ghidoni, Annukka M Tuiskula, Carla Spazzolini, Federica Dagradi, Matti Viitasalo, Kimmo Kontula, Maria-Christina Kotta, Elisabeth Widén, Heikki Swan, Peter J Schwartz
BACKGROUND: Ventricular fibrillation (VF) is a major cause of sudden cardiac death. In some cases clinical investigations fail to identify the underlying cause and the event is classified as idiopathic (IVF). Since mutations in arrhythmia-associated genes frequently determine arrhythmia susceptibility, screening for disease-predisposing variants could improve IVF diagnostics. METHODS AND RESULTS: The study included 76 Finnish and Italian patients with a mean age of 31...
October 5, 2017: International Journal of Cardiology
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