Results 1 to 10 of about 6,848 (166)

Knock-in Kcnh2 rabbit model of long QT syndrome type-2, epilepsy, and sudden death [PDF]

Journal of Translational Medicine
Background Long QT Syndrome Type-2 (LQT2) is due to loss-of-function KCNH2 variants. KCNH2 encodes Kv11.1 that forms a delayed-rectifier potassium channel in the brain and heart.
Veronica Singh, Kyle T. Wagner, Laura G. Williams, Justin M. Ryan, Katherine R. Keller, Jonathan D. Mohnkern, Robert S. Gardner, Louis T. Dang, Julie M. Ziobro, Richard J. H. Wojcikiewicz, Nathan R. Tucker, David S. Auerbach   +11 more
doaj   +4 more sources

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy. [PDF]

J Neurochem
Sudden Unexpected Death in Epilepsy (SUDEP) is the leading cause of mortality in patients in epilepsy, yet its underlying mechanisms are poorly understood.
Lee HM, Gan XN, Aung KP, Forster IC, Reid CA, Soh MS.   +5 more
europepmc   +3 more sources

Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation [PDF]

Frontiers in Genetics
BackgroundLong QT Syndrome (LQTS) is characterized by prolonged QT intervals on electrocardiogram, which may progress into life-threatening polymorphic ventricular tachycardia and sudden cardiac death. Variants in the KCNH2 gene have been associated with
Tianci Wang, Charlene R. Norgan Radler, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy, Mohanakrishnan Sathyamoorthy   +4 more
doaj   +3 more sources

Integrated analysis of the voltage-gated potassium channel-associated gene KCNH2 across cancers

BMC Bioinformatics, 2023
KCNH2 encodes the human ether-a-go-go-related gene (hERG) potassium channel and is an important repolarization reserve for regulating cardiac electrical activity. Increasing evidence suggests that it is involved in the development of various tumours, yet
Zequn Zheng, Yongfei Song
doaj   +2 more sources

AAV9-mediated KCNH2 suppression-replacement gene therapy in a transgenic rabbit model of type 1 short QT syndrome. [PDF]

Eur Heart J
Background and Aims Type 1 short QT syndrome (SQT1) is a genetic channelopathy caused by gain-of-function variants in KCNH2, resulting in shortened cardiac repolarization and QT intervals, which predispose patients to ventricular arrhythmias and sudden ...
Nimani S, Bains S, Alerni N, Ördög B, Horváth A, Matas L, Louradour J, Giammarino L, Tester DJ, Beslac O, Lopez R, Meier S, Egle M, Christoforou N, Barbieri M, Vashanthakumar V, Perez-Feliz S, Parodi C, Garcia Casalta LG, Kim CSJ, Zhou W, Ye D, Jurgensen J, Barry MA, Bego M, Keyes L, Owens J, Pinkstaff J, Christoph J, Zehender M, Brunner M, Heijman J, Casoni D, Praz F, Haeberlin A, Brooks G, Ackerman MJ, Odening KE.   +37 more
europepmc   +2 more sources

Potassium voltage-gated channel subfamily H member 2 (KCNH2) is a promising target for incretin secretagogue therapies

Signal Transduction and Targeted Therapy
Derived from enteroendocrine cells (EECs), glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic peptide (GIP) are pivotal incretin hormones crucial for blood glucose regulation.
Ying-Chao Yuan, Hao Wang, Ze-Ju Jiang, Chang Liu, Qi Li, Si-Rui Zhou, Jin-Kui Yang   +6 more
doaj   +2 more sources

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 ...
Wei-Xi Xiong, Dong Zhou, Jw Sander;
exaly   +2 more sources

Identification and Characterization of a Transcribed Distal Enhancer Involved in Cardiac Kcnh2 Regulation

Cell Reports, 2019
Summary: The human ether-a-go-go-related gene KCNH2 encodes the voltage-gated potassium channel underlying IKr, a current critical for the repolarization phase of the cardiac action potential. Mutations in KCNH2 that cause a reduction of the repolarizing
Malou Van Den Boogaard, Jan Hendrick van Weerd, Ingeborg B Hooijkaas   +2 more
exaly   +3 more sources

Exploring the impact of a KCNH2 missense variant on Long QT syndrome: insights into a novel gender-selective, incomplete penetrance inheritance mode

Frontiers in Genetics
BackgroundLong QT syndrome (LQTS) is an inherited malignant arrhythmia syndrome that poses a risk of sudden death. Variants in the Potassium Voltage-Gated Channel Subfamily H Member 2 (KCNH2) gene are known to cause Long QT syndrome through an autosomal ...
Peng Chen, Peng Chen, Zainul Zampawala, Hong Wang, Luyun Wang   +4 more
doaj   +2 more sources

Pathogenic KCNH2-G53S variant in the PAS domain influences the electrophysiological phenotype in long QT syndrome type 2. [PDF]

Front Cardiovasc Med
Background Long QT syndrome type 2 (LQT2) is an arrythmia caused by loss-of-function mutations in KCNH2, leading to impaired Kv11.1 channel function. Objective To better understand LQT2, we examined the electrophysiological differences related to the ...
Mun D, Kang JY, Park M, Yoo G, Yun N, Hwang Y, Joung B.   +6 more
europepmc   +2 more sources