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https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#1
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29766267/-syncopes-and-channelopathies
#2
REVIEW
Johanna Müller-Leisse, Christos Zormpas, Thorben König, David Duncker, Christian Veltmann
Syncope can be the first manifestation of cardiac channelopathies, namely Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). Patients affected by these rare diseases are at increased risk for sudden cardiac death due to ventricular tachyarrhythmias and require specific therapy and follow-up. As syncope is common in the general population, only few cases are caused by an underlying channelopathy. Nevertheless, the diagnosis should be considered in young patients with structurally normal hearts, especially if the history of syncope is typical for an arrhythmogenic cause, in the presence of characteristic echocardiogram (ECG) patterns, and if there is a family history of channelopathies or sudden cardiac death...
May 15, 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29759541/the-phenotypic-spectrum-of-a-mutation-hotspot-responsible-for-the-short-qt-syndrome
#3
Dan Hu, Yang Li, Jiancheng Zhang, Ryan Pfeiffer, Michael H Gollob, Jeff Healey, Daniel Toshio Harrell, Naomasa Makita, Haruhiko Abe, Yaxun Sun, Jihong Guo, Li Zhang, Ganxin Yan, Douglas Mah, Edward P Walsh, Harris B Leopold, Carla Giustetto, Fiorenzo Gaita, Agnieszka Zienciuk-Krajka, Andrea Mazzanti, Silvia G Priori, Charles Antzelevitch, Hector Barajas-Martinez
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). METHODS: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamp techniques...
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29754923/enhanced-late-sodium-current-underlies-pro-arrhythmic-intracellular-sodium-and-calcium-dysregulation-in-murine-sodium-channelopathy
#4
Mathilde R Rivaud, Antonius Baartscheer, Arie O Verkerk, Leander Beekman, Sridharan Rajamani, Luiz Belardinelli, Connie R Bezzina, Carol Ann Remme
BACKGROUND: Long QT syndrome mutations in the SCN5A gene are associated with an enhanced late sodium current (INa,L ) which may lead to pro-arrhythmic action potential prolongation and intracellular calcium dysregulation. We here investigated the dynamic relation between INa,L , intracellular sodium ([Na+ ]i ) and calcium ([Ca2+ ]i ) homeostasis and pro-arrhythmic events in the setting of a SCN5A mutation. METHODS AND RESULTS: Wild-type (WT) and Scn5a1798insD/+ (MUT) mice (age 3-5 months) carrying the murine homolog of the SCN5A-1795insD mutation on two distinct genetic backgrounds (FVB/N and 129P2) were studied...
July 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29750358/a-population-based-cost-effectiveness-study-of-early-genetic-testing-in-severe-epilepsies-of-infancy
#5
Katherine B Howell, Stefanie Eggers, Kim Dalziel, Jessica Riseley, Simone Mandelstam, Candace T Myers, Jacinta M McMahon, Amy Schneider, Gemma L Carvill, Heather C Mefford, Ingrid E Scheffer, A Simon Harvey
OBJECTIVE: The severe epilepsies of infancy (SEI) are a devastating group of disorders that pose a major care and economic burden on society; early diagnosis is critical for optimal management. This study sought to determine the incidence and etiologies of SEI, and model the yield and cost-effectiveness of early genetic testing. METHODS: A population-based study was undertaken of the incidence, etiologies, and cost-effectiveness of a whole exome sequencing-based gene panel (targeted WES) in infants with SEI born during 2011-2013, identified through electroencephalography (EEG) and neonatal databases...
May 11, 2018: Epilepsia
https://www.readbyqxmd.com/read/29744527/inherited-primary-arrhythmia-disorders-cardiac-channelopathies-and-sports-activity
#6
REVIEW
S Marrakchi, I Kammoun, E Bennour, L Laroussi, M Ben Miled, S Kachboura
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy. It is important to identify the cause of death and to prevent SCD in potentially at-risk family members. Inherited primary arrhythmia disorders are associated with exercise-related SCD. Despite the well-known benefits of exercise, exercise restriction has been a historical mainstay of therapy for these conditions. However, since familiarity with inherited arrhythmia conditions has increased and patients are often children and young adults, it is necessary to reassess the treatment guidelines regarding exercise constraints...
May 9, 2018: Herz
https://www.readbyqxmd.com/read/29723550/scorpion-toxins-to-unravel-the-conundrum-of-ion-channel-structure-and-functioning
#7
Ernesto Ortiz, Lourival D Possani
The consequences of scorpion stings on the affected victims, including humans, have been known since ancient times. The effects of the venom, first on neurotransmission and thereafter on many physiological processes at the organism, tissue, cellular or molecular levels, have been the subject of intense research. It is, therefore, not surprising that a large number of toxins acting on a variety of ion channels have been isolated and described to date. Many of these toxins show high specificities and affinities towards their natural targets...
April 30, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29721001/the-subcutaneous-implantable-cardioverter-defibrillator-review-of-the-recent-data
#8
REVIEW
Stacy B Westerman, Mikhael El-Chami
The subcutaneous implantable cardioverter defibrillators (SICD) is an alternative to the transvenous ICD for the prevention of sudden cardiac death (SCD). Multiple studies have shown that the SICD is safe and effective in treating ventricular arrhythmias. 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. In this review we summarize the data available to date on the SICD while highlighting its pros and cons...
March 2018: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#9
Mathilde R Rivaud, John A Jansen, Pieter G Postema, Eline A Nannenberg, Yuka Mizusawa, Roel van der Nagel, Rianne Wolswinkel, Ingeborg van der Made, Gerard A Marchal, Sridharan Rajamani, Luiz Belardinelli, J Peter van Tintelen, Michael W T Tanck, Allard C van der Wal, Jacques M T de Bakker, Harold V van Rijen, Esther E Creemers, Arthur A M Wilde, Maarten P van den Berg, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Aims: Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk. Here, we investigated the modulatory role of hypertrophy on arrhythmia and SCD risk in sodium channelopathy. Methods and results: Follow-up data was collected from 164 individuals positive for the SCN5A-1795insD founder mutation and 247 mutation-negative relatives. A total of 38 (obligate) mutation-positive patients died suddenly or suffered life-threatening ventricular arrhythmia...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29705154/genetic-mutations-of-young-patients-admitted-to-an-emergency-department-for-syncope-during-sport-practice
#10
Jorge Gómez Alcaraz, José Bustamante, Ervigio Corral, Maria Isabel Casado Florez, David Vivas, Victoria Cañadas-Godoy, Juan González Del Castillo, Juan Jorge González Armengol, Antonio López-Farré, Francisco Javier Martín Sánchez
BACKGROUND AND OBJECTIVES: To study the frequency of genetic mutations related to genetic heart disease among young patients admitted for syncope during sport practice. PATIENTS AND METHODS: A case series study that included patients≤45 years admitted for syncope during sport practice during 2010-2011. We collected demographic and clinical variables, genetic tests mutations and final clinical diagnosis. RESULTS: A genetic test was performed in 46 (76...
April 25, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29697814/implantable-cardioverter-defibrillator-therapy-and-device-related-complications-in-young-patients-with-inherited-cardiomyopathies-or-channelopathies-a-17-year-cohort-study
#11
Lærke D D Petersen, Morten K Christiansen, Lisbeth N Pedersen, Jens C Nielsen, Anders K Broendberg, Henrik K Jensen
Aims: To quantify appropriate and inappropriate therapy and complications related to implantable cardioverter-defibrillator (ICD) treatment in young patients receiving an ICD for a hereditary cardiomyopathy or channelopathy. Methods and results: This was a retrospective study including 117 consecutive patients who had received an ICD at Aarhus University Hospital, Denmark from 1 January 1999 to 31 December 2015. Patients were followed from the date of ICD implantation until migration, death, heart transplantation, or end of follow-up on 1 February 2017...
April 25, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#12
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29684406/conservation-of-cardiac-l-type-ca-2-channels-and-their-regulation-in-drosophila-a-novel-genetically-pliable-channelopathic-model
#13
Worawan B Limpitikul, Meera C Viswanathan, Brian O'Rourke, David T Yue, Anthony Cammarato
Dysregulation of L-type Ca2+ channels (LTCCs) underlies numerous cardiac pathologies. Understanding their modulation with high fidelity relies on investigating LTCCs in their native environment with intact interacting proteins. Such studies benefit from genetic manipulation of endogenous channels in cardiomyocytes, which often proves cumbersome in mammalian models. Drosophila melanogaster, however, offers a potentially efficient alternative as it possesses a relatively simple heart, is genetically pliable, and expresses well-conserved genes...
April 20, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29674667/a-mixed-periodic-paralysis-myotonia-mutant-p1158s-imparts-ph-sensitivity-in-skeletal-muscle-voltage-gated-sodium-channels
#14
Mohammad-Reza Ghovanloo, Mena Abdelsayed, Colin H Peters, Peter C Ruben
Skeletal muscle channelopathies, many of which are inherited as autosomal dominant mutations, include myotonia and periodic paralysis. Myotonia is defined by a delayed relaxation after muscular contraction, whereas periodic paralysis is defined by episodic attacks of weakness. One sub-type of periodic paralysis, known as hypokalemic periodic paralysis (hypoPP), is associated with low potassium levels. Interestingly, the P1158S missense mutant, located in the third domain S4-S5 linker of the "skeletal muscle", Nav1...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29667458/sudden-unexpected-death-in-epilepsy-ongoing-challenges-in-finding-mechanisms-and-prevention
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Stephen C Cannon
No abstract text is available yet for this article.
March 28, 2018: Lancet
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