Results 71 to 80 of about 72,190 (244)

Gain of function mutants: Ion channels and G protein-coupled receptors [PDF]

, 2000
Many ion channels and receptors display striking phenotypes for gain-of-function mutations but milder phenotypes for null mutations. Gain of molecular function can have several mechanistic bases: selectivity changes, gating changes including constitutive
Karschin, Andreas, Lester, Henry A.
core   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Clarithromycin-Induced Long QT Syndrome: A Case Report

Case Reports in Medicine, 2012
Long QT syndrome develops for a number of reasons. The number of non-antiarrhythmic drugs reported to induce QT interval prolongation with or without torsade de pointes continues to increase.
Mecnun Cetin, Munevver Yıldırımer, Serkan Özen, Sema Tanrıverdi, Senol Coskun   +4 more
doaj   +1 more source

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. [PDF]

, 2017
BACKGROUND: Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology.
Ackerman, Aken, Antzelevitch, Arthur A.M. Wilde, Bagnall, Bagnall, Bee Y. Soh, Behr, Behr, Behr, Bezzina, Bezzina, Bo G. Winkel, Cerrone, Chee J. Pua, Christian van der Werf, Connie R. Bezzina, Della Cole, Donald R. Love, Efstathios Papatheodorou, Elijah R. Behr, Elisabeth M. Lodder, Gladding, Greg Mellor, Hariharan Raju, Hayashi, Herman, Hertz, Jackie Crawford, Jacob Tfelt-Hansen, James S. Ware, Jan Till, Jaydutt D. Bhalshankar, Jonathan R. Skinner, Kircher, Lahrouchi, Maria Tome-Esteban, Marta C. Cohen, Mary N. Sheppard, Mellor, Methner, Michael Papadakis, Miles, Najim Lahrouchi, Nunn, Priori, Pua, Rafik Tadros, Richards, Risha Govind, Rizzo, Sanjay Sharma, Semsarian, Skinner, Stuart A. Cook, Task Force for the Diagnosis and Management of Syncope, European Society of Cardiology (ESC), European Heart Rhythm Association (EHRA), Walsh, Wang, Winkel, Wu, Yanushi D. Wijeyeratne, Zhan   +61 more
core   +3 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Long QT Syndrome [PDF]

, 2020
A young woman with a history of seizure disorder and depression suffered a syncopal event. Her ECG revealed QTc prolongation, which resolved with discontinuation of QTc prolonging medications. After experiencing a recurrent syncopal episode, an implantable loop recorder revealed Torsade de pointe.
Adil Yunis, Aditya Bhonsale
openaire   +2 more sources

Artificial intelligence in preclinical epilepsy research: Current state, potential, and challenges

Epilepsia Open, EarlyView.
Abstract Preclinical translational epilepsy research uses animal models to better understand the mechanisms underlying epilepsy and its comorbidities, as well as to analyze and develop potential treatments that may mitigate this neurological disorder and its associated conditions. Artificial intelligence (AI) has emerged as a transformative tool across
Jesús Servando Medel‐Matus, Cesar Santana‐Gomez, Ruby G. Escalante, Dominique Duncan, Pedro F. Viana, Giulia Sofia Cereda, Naoto Kuroda, Aristea S. Galanopoulou   +7 more
wiley   +1 more source

Potassium channel subunits encoded by the KCNE gene family: physiology and pathophysiology of the MinK-related peptides (MiRPs). [PDF]

, 2001
Voltage-gated potassium channels provide tightly Controlled, ion-specific pathways across membranes and are key to the normal function of nerves muscles. They arise from the assembly of four pore-forming proteins called alpha-subunits.
Abbott, GW, Goldstein, SA
core  

Characterization of a variant in the KCNH2 gene in an Ecuadorian patient with long QT syndrome: A case report

Medwave
Long QT syndrome is a rare cardiac channelopathy characterized by prolonged QT intervals and altered T wave morphology. The etiology of long QT syndrome is multifactorial, including environmental and genetic factors.
Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Elius Paz-Cruz, Viviana A. Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano   +8 more
doaj   +1 more source

T-wave alternans in long QT syndrome

Annals of Pediatric Cardiology, 2018
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (
Siddharth Narayan Gadage
doaj   +1 more source