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Channelopathies

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https://www.readbyqxmd.com/read/27899619/the-nextprot-knowledgebase-on-human-proteins-2017-update
#1
Pascale Gaudet, Pierre-André Michel, Monique Zahn-Zabal, Aurore Britan, Isabelle Cusin, Marcin Domagalski, Paula D Duek, Alain Gateau, Anne Gleizes, Valérie Hinard, Valentine Rech de Laval, JinJin Lin, Frederic Nikitin, Mathieu Schaeffer, Daniel Teixeira, Lydie Lane, Amos Bairoch
The neXtProt human protein knowledgebase (https://www.nextprot.org) continues to add new content and tools, with a focus on proteomics and genetic variation data. neXtProt now has proteomics data for over 85% of the human proteins, as well as new tools tailored to the proteomics community.Moreover, the neXtProt release 2016-08-25 includes over 8000 phenotypic observations for over 4000 variations in a number of genes involved in hereditary cancers and channelopathies. These changes are presented in the current neXtProt update...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27882075/in-silico-evaluation-of-the-potential-antiarrhythmic-effect-of-epigallocatechin-3-gallate-on-cardiac-channelopathies
#2
Maroua Boukhabza, Jaouad El Hilaly, Nourdine Attiya, Ahmed El-Haidani, Younes Filali-Zegzouti, Driss Mazouzi, Mohamed-Yassine Amarouch
Ion channels are transmembrane proteins that allow the passage of ions according to the direction of their electrochemical gradients. Mutations in more than 30 genes encoding ion channels have been associated with an increasingly wide range of inherited cardiac arrhythmias. In this line, ion channels become one of the most important molecular targets for several classes of drugs, including antiarrhythmics. Nevertheless, antiarrhythmic drugs are usually accompanied by some serious side effects. Thus, developing new approaches could offer added values to prevent and treat the episodes of arrhythmia...
2016: Computational and Mathematical Methods in Medicine
https://www.readbyqxmd.com/read/27867041/infantile-epileptic-encephalopathy-associated-with-scn2a-mutation-responsive-to-oral-mexiletine
#3
Laura A Foster, Maria R Johnson, John T MacDonald, Peter I Karachunski, Thomas R Henry, David R Nascene, Brian P Moran, Gerald V Raymond
BACKGROUND: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy. METHOD: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation...
October 18, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27844191/-indications-for-implantable-loop-recorders-in-patients-with-channelopathies-and-ventricular-tachycardias
#4
Julia Köbe, Kristina Wasmer, Florian Reinke, Lars Eckardt
Implantable loop recorders (ILR) do not play a pivotal role in the current guidelines on ventricular arrhythmias except in identifying rhythm-symptom correlations if ventricular arrhythmias are assumed. Before a decision for a pure diagnostic implantable device is made, a thorough arrhythmic risk assessment is of major importance due to the potential lethal outcome of ventricular arrhythmias. Nevertheless, some clinical circumstances exist where long-term monitoring by an ILR may add significant information in electrical heart diseases, in patients with ventricular arrhythmias, or structural heart diseases and a potential risk of ventricular arrhythmias...
November 14, 2016: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/27826330/management-of-patients-with-long-qt-syndrome
#5
REVIEW
Yongkeun Cho
Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. Management of patients with LQTS consists of life-style modification, β-blockers, left cardiac sympathetic denervation (LCSD), and implantable cardioverter-defibrillator (ICD) implantation. Prohibition of competitive exercise and avoidance of QT-prolonging drugs are important issues in life-style modification...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27821197/the-association-between-pro-arrhythmic-agents-and-aortic-stenosis-in-young-adults-is-it-sufficient-to-clarify-the-sudden-unexpected-deaths
#6
Bojana Radnic, Nemanja Radojevic, Jelena Vucinic, Natasa Duborija-Kovacevic
Most young patients with mild-to-moderate aortic stenosis show no symptoms, and sudden death appears only occasionally. We hypothesised that malignant ventricular arrhythmias could be responsible for the high incidence of sudden death in such patients. If multiple factors such as asymptomatic aortic stenosis in association with arrhythmia-provoking agents are involved, could it be sufficient to account for sudden unexpected death? In this study, eight cases of sudden death in young adults, with ages ranging from 22 to 36 years, who had never reported any symptoms that could be related to aortic stenosis, were investigated...
November 8, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27807200/molecular-determinants-of-bk-channel-functional-diversity-and-functioning
#7
REVIEW
Ramon Latorre, Karen Castillo, Willy Carrasquel-Ursulaez, Romina V Sepulveda, Fernando Gonzalez-Nilo, Carlos Gonzalez, Osvaldo Alvarez
Large-conductance Ca(2+)- and voltage-activated K(+) (BK) channels play many physiological roles ranging from the maintenance of smooth muscle tone to hearing and neurosecretion. BK channels are tetramers in which the pore-forming α subunit is coded by a single gene (Slowpoke, KCNMA1). In this review, we first highlight the physiological importance of this ubiquitous channel, emphasizing the role that BK channels play in different channelopathies. We next discuss the modular nature of BK channel-forming protein, in which the different modules (the voltage sensor and the Ca(2+) binding sites) communicate with the pore gates allosterically...
January 2017: Physiological Reviews
https://www.readbyqxmd.com/read/27787228/ubiquitination-and-proteasome-mediated-degradation-of-voltage-gated-ca2-channels-and-potential-pathophysiological-implications
#8
Ricardo Felix, Norbert Weiss
Recent findings have revealed a fundamental role of the ubiquitin-proteasome system (UPS) in the regulation of voltage-gated Ca2+ channels (VGCCs). It has been proposed that the ubiquitination-deubiquitination balance dictates the number of channels expressed at the plasma membrane, which in turn influences a number of physiological and pathophysiological processes. This minireview surveys recent studies showing that VGCCs may be ubiquitinated in an unexpectedly complex manner, and highlights the role of the UPS in the regulation of the channels, focusing on the mechanisms that control their cell surface expression...
October 27, 2016: General Physiology and Biophysics
https://www.readbyqxmd.com/read/27784845/potassium-channelopathies-and-gastrointestinal-ulceration
#9
REVIEW
Jaeyong Han, Seung Hun Lee, Gerhard Giebisch, Tong Wang
Potassium channels and transporters maintain potassium homeostasis and play significant roles in several different biological actions via potassium ion regulation. In previous decades, the key revelations that potassium channels and transporters are involved in the production of gastric acid and the regulation of secretion in the stomach have been recognized. Drugs used to treat peptic ulceration are often potassium transporter inhibitors. It has also been reported that potassium channels are involved in ulcerative colitis...
November 15, 2016: Gut and Liver
https://www.readbyqxmd.com/read/27781030/seizures-and-epilepsies-due-to-channelopathies-and-neurotransmitter-receptor-dysfunction-a-parallel-between-genetic-and-immune-aspects
#10
REVIEW
Agustina M Lascano, Christian M Korff, Fabienne Picard
Despite intensive research activity leading to many important discoveries, the pathophysiological mechanisms underlying seizures and epilepsy remain poorly understood. An important number of specific gene defects have been related to various forms of epilepsies, and autoimmunity and epilepsy have been associated for a long time. Certain central nervous system proteins have been involved in epilepsy or acute neurological diseases with seizures either due to underlying gene defects or immune dysfunction. Here, we focus on 2 of them that have been the object of particular attention and in-depth research over the past years: the N-methyl-D-aspartate receptor and the leucin-rich glioma-inactivated protein 1 (LGI1)...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27780555/relation-of-left-atrial-size-to-atrial-fibrillation-in-patients-aged-%C3%A2-22%C3%A2-years
#11
Douglas Y Mah, Divya Shakti, Kimberlee Gauvreau, Steven D Colan, Mark E Alexander, Dominic J Abrams, David W Brown
Left atrial (LA) dilation has been shown to be associated with atrial fibrillation (AF) in the adult population, with some studies indicating that larger LAs are more prone to AF recurrence. The relation of LA size to AF in the pediatric and young adult population has not been investigated. In this study, all pediatric patients (aged ≤22 years) who presented to Boston Children's Hospital from January 2002 to December 2012 with AF were reviewed. Patients with significant congenital heart disease, cardiomyopathies, proven channelopathies, previous cardiac surgery, end-stage renal disease, or severe lung disease/cystic fibrosis were excluded...
September 30, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/27766308/cardiac-disease-and-arrhythmogenesis-mechanistic-insights-from-mouse-models
#12
Lois Choy, Jie Ming Yeo, Vivian Tse, Shing Po Chan, Gary Tse
The mouse is the second mammalian species, after the human, in which substantial amount of the genomic information has been analyzed. With advances in transgenic technology, mutagenesis is now much easier to carry out in mice. Consequently, an increasing number of transgenic mouse systems have been generated for the study of cardiac arrhythmias in ion channelopathies and cardiomyopathies. Mouse hearts are also amenable to physical manipulation such as coronary artery ligation and transverse aortic constriction to induce heart failure, radiofrequency ablation of the AV node to model complete AV block and even implantation of a miniature pacemaker to induce cardiac dyssynchrony...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/27761165/catheter-ablation-for-ventricular-tachyarrhythmia-in-patients-with-channelopathies
#13
REVIEW
Nobuyuki Murakoshi, Kazutaka Aonuma
Drug treatment and/or implantable cardioverter defibrillator (ICD) implantation are the most widely accepted first-line therapies for channelopathic patients who have recurrent syncope, sustained ventricular tachycardia (VT), or documented ventricular fibrillation (VF), or are survivors of cardiac arrest. In recent years, there have been significant advances in mapping techniques and ablation technology, coupled with better understanding of the mechanisms of ventricular tachyarrhythmia in channelopathies. Catheter ablation has provided important insights into the role of the Purkinje network and the right ventricular outflow tract in the initiation and perpetuation of VT/VF, and has evolved as a promising treatment modality for ventricular tachyarrhythmia even in channelopathies...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761163/recent-advances-in-genetic-testing-and-counseling-for-inherited-arrhythmias
#14
Yuka Mizusawa
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along with coronary heart disease (CHD) are three most common disorders that predispose adults to sudden cardiac death. In the last three decades, causal genes in inherited arrhythmias have been successfully identified. At the same time, it has become evident that the genetic architectures are more complex than previously known. Recent advancements in DNA sequencing technology (next generation sequencing) have enabled us to study such complex genetic traits...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27752976/pharmacogenomics-and-pharmacogenetics-for-the-intensive-care-unit-a-narrative-review
#15
Meghan MacKenzie, Richard Hall
PURPOSE: Knowledge of how alterations in pharmacogenomics and pharmacogenetics may affect drug therapy in the intensive care unit (ICU) has received little study. We review the clinically relevant application of pharmacogenetics and pharmacogenomics to drugs and conditions encountered in the ICU. SOURCE: We selected relevant literature to illustrate the important concepts contained within. PRINCIPAL FINDINGS: Two main approaches have been used to identify genetic abnormalities - the candidate gene approach and the genome-wide approach...
October 17, 2016: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/27734276/targeted-next-generation-sequencing-the-diagnostic-value-in-early-onset-epileptic-encephalopathy
#16
Sarenur Gokben, Huseyin Onay, Sanem Yilmaz, Tahir Atik, Gul Serdaroglu, Hande Tekin, Ferda Ozkinay
We investigated the genetic background of early-onset epileptic encephalopathy (EE) using targeted next generation sequencing analysis. Thirty sporadic or familial cases associated with early-onset EE were included. An early-onset EE gene panel including sixteen genes (ARX, CDKL5, CNTNAP2, FOLR1, FOXG1, LAMC3, MBD5, MECP2, NTNG1, PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in 30 cases (40 %) were identified. All mutations presented heterozygously except one...
October 12, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27698745/concomitant-presentation-of-anderson-tawil-syndrome-and-myasthenia-gravis-in-an-adult-patient-a-case-report
#17
Rui Fan, Ruirui Ji, Wenxin Zou, Guoliang Wang, Hu Wang, Daniel James Penney, Jin Jun Luo, Yuxin Fan
Andersen-Tawil syndrome (ATS) is an autosomal dominant, multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias and distinctive dysmorphic facial or skeletal features. The disorder displays marked intrafamilial variability and incomplete penetrance. Myasthenia gravis (MG) is an autoimmune disorder that demonstrates progressive fatigability, in which the nicotinic acetylcholine receptor (AChR) at neuromuscular junctions is the primary autoantigen. The present study reports a rare case of a 31-year-old woman with a history of morbid obesity and periodic weakness, who presented with hemodynamic instability, cardiogenic shock and facial anomalies...
October 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27688678/all-that-looks-like-brugada-is-not-brugada-case-series-of-brugada-phenocopy-caused-by-hyponatremia
#18
Yashwant Agrawal, Sourabh Aggarwal, Jagadeesh K Kalavakunta, Vishal Gupta
Brugada syndrome (BS), a life-threatening channelopathy associated with reduced inward sodium current due to dysfunctional sodium channels, is characterized by ST-segment elevation with downsloping "coved type" (type 1) or "saddle back" (type 2) pattern in V1-V3 precordial chest leads (1, 2). Brugada phenocopy, a term describing conditions inducing Brugada-like pattern of electrocardiogram (EKG) manifestations in patients without true BS, is an emerging condition (3). We describe a case series of Brugada phenocopy with hyponatremia...
October 2016: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/27672637/challenges-in-molecular-diagnostics-of-channelopathies-in-the-next-generation-sequencing-era-less-is-more
#19
Valeria Novelli, Patrick Gambelli, Mirella Memmi, Carlo Napolitano
No abstract text is available yet for this article.
2016: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/27650965/genetic-investigation-of-100-heart-genes-in-sudden-unexplained-death-victims-in-a-forensic-setting
#20
Sofie Lindgren Christiansen, Christin Løth Hertz, Laura Ferrero-Miliani, Morten Dahl, Peter Ejvin Weeke, LuCamp, Gyda Lolk Ottesen, Rune Frank-Hansen, Henning Bundgaard, Niels Morling
In forensic medicine, one-third of the sudden deaths remain unexplained after medico-legal autopsy. A major proportion of these sudden unexplained deaths (SUD) are considered to be caused by inherited cardiac diseases. Sudden cardiac death (SCD) may be the first manifestation of these diseases. The purpose of this study was to explore the yield of next-generation sequencing of genes associated with SCD in a cohort of SUD victims. We investigated 100 genes associated with cardiac diseases in 61 young (1-50 years) SUD cases...
September 21, 2016: European Journal of Human Genetics: EJHG
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