Results 41 to 50 of about 10,273 (224)

KCNH2 variants in a family with epilepsy and Long QT syndrome: a case report and literature review.

Epileptic disorders, 2023
BACKGROUND Genes associated with Long QT syndromes (LQTS), such as KCNQ1, KCNH2, and SCN5A, are common causes of epilepsy. The Arg 744* variant of KCNH2 has been previously reported in people with epilepsy or LQTS, but none of these patients were ...
Yu Zhou, N. Hao, J. Sander, Xu Lin, Weixi Xiong, Dong Zhou   +5 more
semanticscholar   +1 more source

Linkage Evidence for a Two-Locus Inheritance of LQT-Associated Seizures in a Multigenerational LQT Family With a Novel KCNQ1 Loss-of-Function Mutation [PDF]

, 2019
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, and
Gessner, Guido, Heinemann, Stefan H., Prüss, Harald, Rimpau, Wilhelm, Ruppert, Ann-Katrin, Rüschendorf, Franz, Sander, Thomas, Schulz, Herbert   +7 more
core   +2 more sources

Preclinical safety and biodistribution assessment of Ad‐KCNH2‐G628S administered via atrial painting in New Zealand white rabbits

Basic & Clinical Pharmacology & Toxicology, 2023
Post‐operative atrial fibrillation (POAF) is the most common complication after cardiac surgery. Despite implementation of several pharmacological strategies, incidence of POAF remains at approximately 30%.
Janet M. Benson, Gensheng Wang, J. Hutt, Guodong Wu, S. Kaminsky, S. Cram, Rajeshkumar Barur, J. K. Donahue   +7 more
semanticscholar   +1 more source

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
doaj   +1 more source

Kcnh2 deletion is associated with rat embryonic development defects via destruction of KCNH2-integrin β1 complex

International Journal of Molecular Medicine, 2023
The Kv11.1 potassium channel encoded by the Kcnh2 gene is crucial in conducting the rapid delayed rectifier K+ current in cardiomyocytes. Homozygous mutation in Kcnh2 is embryonically lethal in humans and mice. However, the molecular signaling pathway of
Sangyu Hu, Zhigang Li, Huan Liu, Wen-Ze Cao, Yilei Meng, Chang Liu, Siyu He, Qin Lin, Mengyue Shang, Fang Lin, Na Yi, Hanrui Wang, A. Sachinidis, Qilong Ying, Li Li, Luying Peng   +15 more
semanticscholar   +1 more source

Upregulation of Functional Kv11.1 Isoform Expression by Inhibition of Intronic Polyadenylation with Antisense Morpholino Oligonucleotides

, 2012
The KCNH2 gene encodes the Kv11.1 potassium channel that conducts the rapidly activating delayed rectifier current in the heart. KCNH2 pre-mRNA undergoes alternative processing; intron 9 splicing leads to the formation of a functional, full-length Kv11 ...
Gong, Qiuming, Stump, Matthew R., Zhou, Zhengfeng   +2 more
core   +2 more sources

Integration of genetics into a systems model of electrocardiographic traits using humanCVD BeadChip [PDF]

, 2012
<p>Background—Electrocardiographic traits are important, substantially heritable determinants of risk of arrhythmias and sudden cardiac death.</p> <p>Methods and Results—In this study, 3 population-based cohorts (n=10 526) genotyped ...
Adeniran, I., Amuzu, A., Braund, P.S., Burton, P.R., Casas, J.-P., Day, I.N.M., Drenos, F., Eriksson, P., Folkersen, L., Gaunt, T.R., Hancox, J.C., Hingorani, A.D., Humphries, S.E., Kivimaki, M., Kumari, M., Lawlor, D.A., Macfarlane, P.W., Nelson, C.P., Samani, N.J., Shah, S., Talmud, P.J., Tobin, M.D., Tomaszewski, M., Whittaker, J., Zhang, H.   +24 more
core   +1 more source

Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation

Europace, 2023
Aims Patients with particular mutations of type-2 long QT syndrome (LQT2) are at an increased risk for malignant arrhythmia during fever. This study aimed to determine the mechanism by which KCNH2 mutations cause fever-induced QT prolongation and ...
K. Usuda, K. Hayashi, T. Nakajima, Y. Kurata, S. Cui, T. Kusayama, T. Tsuda, H. Tada, Takeshi Kato, K. Sakata, S. Usui, N. Fujino, Yoshihiro Tanaka, Y. Kaneko, M. Kurabayashi, S. Tange, Takekatsu Saito, K. Ohta, M. Yamagishi, M. Takamura   +19 more
semanticscholar   +1 more source

Quercetin is a foe in the heart by targeting the hERG potassium channel [PDF]

Iranian Journal of Basic Medical Sciences
Objective(s): Quercetin is a plant flavonoid known for its pharmacological activities, such as antioxidant, anti-inflammatory, and anti-cancer properties. However, there is limited information available regarding its potential toxicities.
Zihao Lu, Shuwen Li, Rui Wei, Wenwen Li, Yuqian Huang, Tingting Yang, Meng Yan   +6 more
doaj   +1 more source

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types. [PDF]

, 2017
Large-scale collections of induced pluripotent stem cells (iPSCs) could serve as powerful model systems for examining how genetic variation affects biology and disease.
Adler, Eric, Aguirre, Aitor, Arias, Angelo D, Benaglio, Paola, Berggren, W Travis, Borja, Victor, Chi, Neil C, Cook, Megan, D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Dargitz, Carl T, DeBoever, Christopher, Diffenderfer, Kenneth E, Donovan, Margaret KR, Drees, Frauke, Evans, Sylvia M, Farnam, KathyJean, Feiring, Rachel, Frazer, Kelly A, Garcia, Melvin, Goldstein, Lawrence SB, Greenwald, William W, Grinstein, Jonathan D, Harismendy, Olivier, Hashem, Sherin I, Hishida, Yuriko, Izpisua Belmonte, Juan Carlos, Jakubosky, David A, Jepsen, Kristen, Li, He, Loring, Jeanne F, Matsui, Hiroko, McGarry, Thomas J, Miller, Carl A, Modesto, Veronica, Müller, Franz-Josef, Nariai, Naoki, Nelson, Bradley C, O'Connor, Daniel T, Okubo, Jonathan, Panopoulos, Athanasia D, Rao, Fangwen, Reyna, Joaquin, Schuldt, Bernhard M, Smith, Erin N, Williams, Roy, Yeo, Gene W, Zhao, Chang   +47 more
core   +2 more sources