Results 31 to 40 of about 9,035 (197)

Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes

Clinical Medicine Insights: Cardiology, 2017
Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome.
Thomas M Roston, Taylor Cunningham, Anna Lehman, Zachary W Laksman, Andrew D Krahn, Shubhayan Sanatani   +5 more
doaj   +1 more source

Cardiac Genetic Investigation of Sudden Infant and Early Childhood Death: A Study From Victims to Families

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Sudden infant death syndrome (SIDS) is the leading cause of death up to age 1. Sudden unexplained death in childhood (SUDC) is similar but affects mostly toddlers aged 1 to 4.
Maria‐Christina Kotta, Margherita Torchio, Pauline Bayliss, Marta C. Cohen, Oliver Quarrell, Nigel Wheeldon, Tamás Marton, Davide Gentilini, Lia Crotti, Robert C. Coombs, Peter J. Schwartz   +10 more
doaj   +1 more source

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundPhenotypic overlap of type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), cardiac conduction disease (CCD), and sinus node dysfunction (SND) is observed with SCN5A mutations.
Christian Veltmann, Hector Barajas‐Martinez, Christian Wolpert, Martin Borggrefe, Rainer Schimpf, Ryan Pfeiffer, Gabriel Cáceres, Elena Burashnikov, Charles Antzelevitch, Dan Hu   +9 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

The neuronal channelopathies [PDF]

Brain, 2002
This review addresses the molecular and cellular mechanisms of diseases caused by inherited mutations of ion channels in neurones. Among important recent advances is the elucidation of several dominantly inherited epilepsies caused by mutations of both voltage-gated and ligand-gated ion channels. The neuronal channelopathies show evidence of phenotypic
openaire   +2 more sources

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Dissecting the Ecological Structure of Health and Disease in the Global Gut Microbiome

Advanced Science, EarlyView.
We introduce Wiredancer, a framework that identifies three continuous ecological factors of the gut microbiota. These factors exhibit distinct patterns across health and disease, jointly capturing disrupted ecological stability and offering a new perspective for precision diagnostics and therapeutic strategies.
Baoyuan Zhu, Shuhao Chen, Yunheng Diao, Wei Wang, Yuanyuan Huang, Liqin Liang, Xiaodan Lu, Rui Han, Minxin Guo, Zhaobo Li, Shuhong Wang, Hehua Li, Chenyu Liu, Jing Zhou, Dongsheng Xiong, Xiaobo Li, Yuping Ning, Xuetao Shi, Fengchun Wu, Kai Wu   +19 more
wiley   +1 more source

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021
Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest.
C. Anwar A. Chahal, David J. Tester, Ahmed U. Fayyaz, Keerthi Jaliparthy, Nadeem A. Khan, Dongmei Lu, Mariha Khan, Aradhana Sahoo, Aiswarya Rajendran, Jennifer A. Knight, Michael A. Simpson, Elijah R. Behr, Elson L. So, Erik K. St. Louis, R. Ross Reichard, William D. Edwards, Michael J. Ackerman, Virend K. Somers   +17 more
doaj   +1 more source

CRAC channelopathies [PDF]

Pflügers Archiv - European Journal of Physiology, 2010
Store-operated Ca2+ entry (SOCE) is an important Ca2+ influx pathway in many non-excitable and some excitable cells. It is regulated by the filling state of intracellular Ca2+ stores, notably the endoplasmic reticulum (ER). Reduction in [Ca2+]ER results in activation of plasma membrane Ca2+ channels that mediate sustained Ca2+ influx which is required ...
openaire   +2 more sources

Challenges and innovation: Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes

Frontiers in Cardiovascular Medicine, 2022
Disease modeling using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) has both challenges and promise. While patient-derived iPSC-CMs provide a unique opportunity for disease modeling with isogenic cells, the challenge is that ...
Louise Reilly, Saba Munawar, Jianhua Zhang, Wendy C. Crone, Lee L. Eckhardt   +4 more
doaj   +1 more source