Results 61 to 70 of about 8,166 (199)

Exercising electrocardiograms from Thoroughbred racehorses with exercise associated sudden death

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise associated sudden death (EASD), defined as a fatal collapse in a closely monitored and previously presumed clinically healthy horse that occurs during exercise or within approximately 1 h after exercise, is disproportionately more common in equine than in human athletes.
Cristobal Navas de Solis, M. Durando, L. Nath, S. Durward‐Akhurst   +3 more
wiley   +1 more source

Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes

Frontiers in Cell and Developmental Biology, 2019
BackgroundAmong rare channelopathies BrS patients are at high risk of sudden cardiac death (SCD). SCN5A mutations are found in a quarter of patients. Other rare gene mutations including SCN1B have been implicated to BrS.
Ibrahim El-Battrawy, Ibrahim El-Battrawy, Jonas Müller, Jonas Müller, Zhihan Zhao, Zhihan Zhao, Lukas Cyganek, Lukas Cyganek, Rujia Zhong, Feng Zhang, Mandy Kleinsorge, Mandy Kleinsorge, Huan Lan, Huan Lan, Huan Lan, Xin Li, Qiang Xu, Mengying Huang, Zhenxing Liao, Alexander Moscu-Gregor, Sebastian Albers, Sebastian Albers, Hendrik Dinkel, Siegfried Lang, Siegfried Lang, Sebastian Diecke, Wolfram-Hubertus Zimmermann, Wolfram-Hubertus Zimmermann, Jochen Utikal, Jochen Utikal, Thomas Wieland, Thomas Wieland, Martin Borggrefe, Martin Borggrefe, Xiaobo Zhou, Xiaobo Zhou, Xiaobo Zhou, Ibrahim Akin, Ibrahim Akin   +38 more
doaj   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Biophysical Characterization of a Novel SCN5A Mutation Associated With an Atypical Phenotype of Atrial and Ventricular Arrhythmias and Sudden Death

Frontiers in Physiology, 2020
BackgroundSudden cardiac death (SCD) is an unexpected death that occurs within an hour of the onset of symptoms. Hereditary primary electrical disorders account for up to 1/3 of all SCD cases in younger individuals and include conditions such as ...
Mohammad-Reza Ghovanloo, Joseph Atallah, Carolina A. Escudero, Peter C. Ruben   +3 more
doaj   +1 more source

Impact of Antiarrhythmic Drugs on the Outcome of Short QT Syndrome

Frontiers in Pharmacology, 2019
Short QT syndrome (SQTS) is associated with sudden cardiac arrest. There are limited data on the impact of antiarrhythmic drugs on the outcome of SQTS.Materials and Methods: We studied data that describe the clinical outcome of 62 SQTS patients treated ...
Ibrahim El-Battrawy, Ibrahim El-Battrawy, Johanna Besler, Xin Li, Xin Li, Huan Lan, Huan Lan, Zhihan Zhao, Zhihan Zhao, Volker Liebe, Rainer Schimpf, Siegfried Lang, Siegfried Lang, Christian Wolpert, Xiaobo Zhou, Xiaobo Zhou, Ibrahim Akin, Ibrahim Akin, Martin Borggrefe, Martin Borggrefe   +19 more
doaj   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene

Frontiers in Physiology, 2015
Episodic ataxia type 1 (EA1) is an autosomal dominant K+ channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia.
Maria Cristina D'Adamo, Maria Cristina D'Adamo, Constanze eGallenmueller, Constanze eGallenmueller, Constanze eGallenmueller, Ilenio eServettini, Elisabeth eHartl, Stephen eTucker, Larissa eArning, Saskia eBiskup, Alessandro eGrottesi, Luca eGuglielmi, Paola eImbrici, Pia eBernasconi, Giuseppe eDi Giovanni, Giuseppe eDi Giovanni, Fabio eFranciolini, Luigi eCatacuzzeno, Mauro ePessia, Mauro ePessia, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock, Thomas eKlopstock   +23 more
doaj   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

Differential Regulation of Nav1.1 and SCN1A Disease Mutant Sodium Current Properties by Fibroblast Growth Factor Homologous Factors

Cells
Fibroblast growth factor homologous factors (FHFs) regulate the activity of several different voltage-gated sodium channels (Navs). However, more work is needed to determine how specific FHF isoforms and variants affect the properties of different Nav ...
Ashley Frazee, Agnes Zybura, Theodore R. Cummins   +2 more
doaj   +1 more source

Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases

Frontiers in Cardiovascular Medicine, 2016
Sudden cardiac death (SCD) in the young (
Najim eLahrouchi, Elijah R Behr, Connie R. Bezzina   +2 more
doaj   +1 more source