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https://www.readbyqxmd.com/read/29667458/sudden-unexpected-death-in-epilepsy-ongoing-challenges-in-finding-mechanisms-and-prevention
#1
Doungporn Ruthirago, Parunyou Julayanont, Amputch Karukote, Mohamed Shehabeldin, Kenneth Nugent
Patients with epilepsy have a significantly higher risk of death than the general population. Sudden unexpected death in epilepsy (SUDEP) is the leading cause of sudden death among patients with epilepsy. Despite on-going research, there are still deficits in our knowledge about the mechanisms, genetic factors, and prevention of SUDEP. Current evidence suggests that cardiac arrhythmias, respiratory dysfunction, and brainstem arousal system dysfunction are the major mechanisms of SUDEP, and animal models support the role of neurotransmitters, especially serotonin and adenosine, in pathophysiology of SUDEP...
April 18, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29666984/unusual-white-matter-involvement-in-east-syndrome-associated-with-novel-kcnj10-mutations
#2
Mariasavina Severino, Susanna Lualdi, Chiara Fiorillo, Pasquale Striano, Teresa De Toni, Silvio Peluso, Giuseppe De Michele, Andrea Rossi, Mirella Filocamo, Claudio Bruno
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, and tubulopathy (EAST syndrome) is a rare channelopathy due to KCNJ10 mutations. So far, only mild cerebellar hypoplasia and/or dentate nuclei abnormalities have been reported as major neuroimaging findings in these patients. METHODS: We analyzed the clinical and brain MRI features of two unrelated patients (aged 27 and 23 years) with EAST syndrome carrying novel homozygous frameshift mutations (p.Asn232Glnfs*14and p...
April 17, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#3
REVIEW
W Grimm, A Grimm, K Grimm, E Efimova
A number of rare cardiac diseases can be recognized by electrocardiogram (ECG). This article illustrates the clinical importance of ECG as a key diagnostic tool to detect Wolff-Parkinson-White syndrome and channelopathies, which are frequently diagnosed late after one or more affected family members have become victims of sudden cardiac death. These channelopathies include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. In addition, typical ECG findings are frequently present in patients with idiopathic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, digitalis intoxication, hyperkalemia, acute cor pulmonale due to pulmonary embolism, as well as severe left ventricular hypertrophy as in hypertrophic cardiomyopathy...
April 4, 2018: Der Internist
https://www.readbyqxmd.com/read/29608225/prediction-of-ventricular-tachyarrhythmia-in-brugada-syndrome-by-right-ventricular-outflow-tract-conduction-delay-signs
#4
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
BACKGROUND: Brugada syndrome (BrS) is an autosomal dominant disease responsible for sudden cardiac death in young individuals without structural anomalies. The most critical part in management of this channelopathy is identification of high risk patients, especially asymptomatic subjects. Prior studies have shown that conduction delay in the right ventricular outflow tract (RVOT) is the main mechanism for developing ventricular tachyarrhythmia (VTA) in BrS patients. The aim of this study was to investigate the significance of electrocardiographic RVOT conduction delay parameters as predictors for development of VTA in patients with BrS...
April 2, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29606556/prevalence-and-mutation-spectrum-of-skeletal-muscle-channelopathies-in-the-netherlands
#5
B C Stunnenberg, J Raaphorst, J C W Deenen, T P Links, A A Wilde, D J Verbove, E J Kamsteeg, A van den Wijngaard, C G Faber, G J van der Wilt, B G M van Engelen, G Drost, H B Ginjaar
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100...
March 9, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29605428/skeletal-muscle-channelopathy-a-new-risk-for-sudden-infant-death-syndrome
#6
Stephen C Cannon
No abstract text is available yet for this article.
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29590732/genetic-aspects-of-hereditary-arrhythmogenic-syndromes-in-children-and-adults
#7
REVIEW
Vesna Miranović, Snežana Crnogorac
Recent research has revealed the genetic etiology of a number of heart diseases that cause sudden cardiac death. Lethal channelopathies are of great importance among the genetically determined heart diseases. Their basic characteristics are unpredictable and deadly nature, autosomal dominant inheritance with variable expressivity and incomplete penetrance in structurally normal heart, and absence of morphological and histological clues that a standard autopsy can identify. Minimum screening of the relatives of sudden cardiac death victims involves taking medical history, physical examination, electrocardiography, echocardiography, and exercise testing...
December 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29581918/steroids-and-thyrotoxicosis-precipitate-periodic-paralysis
#8
Rizwan Ahamed, Sarah McCalley, Anupam A Sule
Thyrotoxic Periodic Paralysis (TPP) belongs to a group of muscle diseases called channelopathies, which present with painless generalized muscle weakness without exertion. TPP can be precipitated by a large carbohydrate meal, stress, strenuous exercise, alcohol, a high-salt diet, menstruation, and cold temperatures. Rarely, steroids such as dexamethasone can also precipitate a TPP attack. A 29-year-old Hispanic male, with a history of hyperthyroidism, presented to the emergency department with progressive weakness, predominantly in the lower extremities since morning...
January 23, 2018: Curēus
https://www.readbyqxmd.com/read/29575912/intrathalamic-connections-shape-spindle-activity-a-modelling-study
#9
Bálint Bús, Károly Antal, Zsuzsa Emri
Spindle oscillations are generated predominantly during sleep state II, through cyclical interactions between thalamocortical and reticular neurons. Inhibition from reticular cells is critical for this activity; it enables burst firing by the de-inactivation of T-type Ca2+ channels. While the effect of different channelopathies on spindling is extensively investigated, our knowledge about the role of intrathalamic connections is limited. Therefore, we explored how the connection pattern and the density of reticular inhibitory synapses affect spindle activity in a thalamic network model...
March 2018: Acta Biologica Hungarica
https://www.readbyqxmd.com/read/29566261/effects-of-trimethoprim-sulfadiazine-and-detomidine-on-the-function-of-equine-k-v-11-1-channels-in-a-two-electrode-voltage-clamp-tevc-oocyte-model
#10
D S Trachsel, M A Tejada, V Groesfjeld Christensen, P J Pedersen, J K Kanters, R Buhl, K Calloe, D A Klaerke
The long QT syndrome (LQTS) is a channelopathy that can lead to severe arrhythmia and sudden cardiac death. Pharmacologically induced LQTS is caused by interaction between drugs and potassium channels, especially the Kv 11.1 channel. Due to such interactions, numerous drugs have been withdrawn from the market or are administered with precautions in human medicine. However, some compounds, such as trimethoprim-sulfonamide combinations are still widely used in veterinarian medicine. Therefore, we investigate the effect of trimethoprim-sulfadiazine (TMS), trimethoprim, sulfadiazine, and detomidine on equine-specific Kv 11...
March 22, 2018: Journal of Veterinary Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/29544605/cardiac-genetic-predisposition-in-sudden-infant-death-syndrome
#11
David J Tester, Leonie C H Wong, Pritha Chanana, Amie Jaye, Jared M Evans, David R FitzPatrick, Margaret J Evans, Peter Fleming, Iona Jeffrey, Marta C Cohen, Jacob Tfelt-Hansen, Michael A Simpson, Elijah R Behr, Michael J Ackerman
BACKGROUND: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. OBJECTIVES: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. METHODS: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes...
March 20, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29541969/improving-sudden-cardiac-death-risk-stratification-by-evaluating-electrocardiographic-measures-of-global-electrical-heterogeneity-and-clinical-outcomes-among-patients-with-implantable-cardioverter-defibrillators-rationale-and-design-for-a-retrospective-multicenter
#12
Jonathan W Waks, Christopher Hamilton, Saumya Das, Ashkan Ehdaie, Jessica Minnier, Sanjiv Narayan, Mark Niebauer, Merritt Raitt, Christine Tompkins, Niraj Varma, Sumeet Chugh, Larisa G Tereshchenko
PURPOSE: Implantable cardioverter-defibrillators (ICDs) improve survival of systolic heart failure (HF) patients who are at risk of sudden cardiac death (SCD). We recently showed that electrocardiographic (ECG) global electrical heterogeneity (GEH) is independently associated with SCD in the community-dwelling cohort and developed GEH SCD risk score. The Global Electrical Heterogeneity and Clinical Outcomes (GEHCO) study is a retrospective multicenter cohort designed with two goals: (1) validate an independent association of ECG GEH with sustained ventricular tachyarrhythmias and appropriate ICD therapies and (2) validate GEH ECG risk score for prediction of sustained ventricular tachyarrhythmias and appropriate ICD therapies in systolic HF patients with primary prevention ICD...
March 14, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29531381/-latest-news-and-perspectives-in-cardiogenetics
#13
Michele Malagù, Fatima Zaraket, Francesca Gualandi, Alessandra Ferlini, Alessandro Brieda, Francesco Vitali, Annamaria Del Franco, Cristina Balla, Alessandro Fucili, Roberto Ferrari, Matteo Bertini
In recent years, cardiogenetics is emerging as a major discipline for the study of many pathologies, with immediate clinical effects for patients who were previously managed by the cardiologist alone. Recent acquisitions have allowed significant improvements in terms of diagnostic characterization, prognostic stratification and guidance for treatment for both patients with genetic disease and their family members. At present, cardiogenetics has an important role for the clinical management of patients with cardiomyopathies and channelopathies...
February 2018: Giornale Italiano di Cardiologia
https://www.readbyqxmd.com/read/29525288/cardiac-channelopathies-the-role-of-sodium-channel-mutations
#14
REVIEW
Diana João Fonseca, Manuel Joaquim Vaz da Silva
INTRODUCTION AND OBJECTIVES: The importance of sodium channels for the normal electrical activity of the heart is emphasized by the fact that mutations (inherited or de novo) in genes that encode for these channels or their associated proteins cause arrhythmogenic syndromes such as the Brugada syndrome and the long QT syndrome (LQTS). The aim of this study is to conduct a review of the literature on the mutations in the sodium channel complex responsible for heart disease and the implications of a close relationship between genetics and the clinical aspects of the main cardiac channelopathies, namely at the level of diagnosis, risk stratification, prognosis, screening of family members and treatment...
March 7, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29522070/presentation-of-trpm1-associated-congenital-stationary-night-blindness-in-children
#15
Virginia Miraldi Utz, Wanda Pfeifer, Susannah Q Longmuir, Richard John Olson, Kai Wang, Arlene V Drack
Importance: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric clinical presentation and the course of different genetic subtypes of CSNB have not, to our knowledge, been well described in the era of molecular genetic diagnosis. Objective: To describe the presentation and longitudinal clinical characteristics of pediatric patients with molecularly confirmed TRPM1-associated complete CSNB (cCSNB)...
March 8, 2018: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29518895/retinal-cyclic-nucleotide-gated-channels-from-pathophysiology-to-therapy
#16
REVIEW
Stylianos Michalakis, Elvir Becirovic, Martin Biel
The first step in vision is the absorption of photons by the photopigments in cone and rod photoreceptors. After initial amplification within the phototransduction cascade the signal is translated into an electrical signal by the action of cyclic nucleotide-gated (CNG) channels. CNG channels are ligand-gated ion channels that are activated by the binding of cyclic guanosine monophosphate (cGMP) or cyclic adenosine monophosphate (cAMP). Retinal CNG channels transduce changes in intracellular concentrations of cGMP into changes of the membrane potential and the Ca2+ concentration...
March 7, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29511324/role-of-copy-number-variants-in-sudden-cardiac-death-and-related-diseases-genetic-analysis-and-translation-into-clinical-practice
#17
Jesus Mates, Irene Mademont-Soler, Bernat Del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy)...
March 6, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29507198/-best1-gene-therapy-corrects-a-diffuse-retina-wide-microdetachment-modulated-by-light-exposure
#18
Karina E Guziewicz, Artur V Cideciyan, William A Beltran, András M Komáromy, Valerie L Dufour, Malgorzata Swider, Simone Iwabe, Alexander Sumaroka, Brian T Kendrick, Gordon Ruthel, Vince A Chiodo, Elise Héon, William W Hauswirth, Samuel G Jacobson, Gustavo D Aguirre
Mutations in the BEST1 gene cause detachment of the retina and degeneration of photoreceptor (PR) cells due to a primary channelopathy in the neighboring retinal pigment epithelium (RPE) cells. The pathophysiology of the interaction between RPE and PR cells preceding the formation of retinal detachment remains not well-understood. Our studies of molecular pathology in the canine BEST1 disease model revealed retina-wide abnormalities at the RPE-PR interface associated with defects in the RPE microvillar ensheathment and a cone PR-associated insoluble interphotoreceptor matrix...
March 5, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29501670/amino-acid-level-signal-to-noise-analysis-of-incidentally-identified-variants-in-genes-associated-with-long-qt-syndrome-during-pediatric-whole-exome-sequencing-reflects-background-genetic-noise
#19
Andrew P Landstrom, Ernesto Fernandez, Jill A Rosenfeld, Yaping Yang, Andrew L Dailey-Schwartz, Christina Y Miyake, Hugh D Allen, Daniel J Penny, Jeffrey J Kim
BACKGROUND: Due to rapid expansion of clinical genetic testing, an increasing number of genetic variants of undetermined significance are being identified in children with unclear diagnostic value. Variants found in genes associated with heritable channelopathies, such as long QT syndrome (LQTS), are particularly difficult to interpret given the risk of sudden cardiac death associated with pathologic mutations. OBJECTIVE: To determine whether variants in LQTS-associated genes from whole exome sequencing (WES) represent disease-associated biomarkers or background genetic "noise...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29497013/genetic-basis-of-channelopathies-and-cardiomyopathies-in-hong-kong-chinese-patients-a-10-year-regional-laboratory-experience
#20
C M Mak, S Pl Chen, N S Mok, W K Siu, H Hc Lee, C K Ching, P T Tsui, N C Fong, Y P Yuen, W T Poon, C Y Law, Y K Chong, Y W Chan, T C Yung, K Yy Fan, C W Lam
INTRODUCTION: Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic testing can provide an accurate diagnosis, guide treatment, and enable cascade screening. The genetic basis among the Hong Kong Chinese population is largely unknown. We aimed to report on 28 unrelated patients with positive genetic findings detected from January 2006 to December 2015. METHODS: Sanger sequencing was performed for 28 unrelated patients with a clinical diagnosis of channelopathies or cardiomyopathies, testing for the following genes: KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A, for long QT syndrome; SCN5A for Brugada syndrome; RYR2 for catecholaminergic polymorphic ventricular tachycardia; MYH7 and MYBPC3 for hypertrophic cardiomyopathy; LMNA for dilated cardiomyopathy; and PKP2 and DSP for arrhythmogenic right ventricular dysplasia/cardiomyopathy...
March 2, 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
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