Results 111 to 120 of about 6,642 (199)

Potassium channel Kv11.1 (KCNH2) [PDF]

Science-Business eXchange, 2010
openaire   +1 more source

Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRPI ion channel:Implications for acquired and congenital long Q-T syndrome

, 2001
Background: The voltage-gated, rapid-delayed rectifier current (IKr) is important for repolarization of the heart, and mutations in the genes coding for the K+-ion channel conducting this current, i.e., KCNH2 for the α-subunit HERG and KCNE2 for the β ...
Larsen, L. A., Andersen, P. S., Svendsen, I. H., Kanters, J., TranebjÆrg, L., Vuust, J., Wettrell, G., Bathen, J., Jacobsen, J. R., Christiansen, M.   +9 more
core   +1 more source

Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy

Objective: Sudden unexpected death in epilepsy (SUDEP) is the leading cause of premature mortality in epilepsy. Genetic studies have identified that loss-of-function (LOF) KCNH2 variants are enriched in SUDEP patients, suggesting that they may act as a ...
Kuanyshbek, A, Phillips, AM, Semsarian, C, Mohamed Syazwan, ES, Berkovic, SF, Reid, CA, Soh, MS, Hu, A, Lee, HM, McKenzie, CE, Bleakley, LE, Scheffer, IE   +11 more
core   +1 more source

Caracterización de la mutación R1032W y T337S en el gen KCNH2 codificante para el canal de potasio dependiente de voltaje HERG [PDF]

, 2014
"El gen KCNH2 o HERG, codifica para el canal de potasio Kv 11.1, el cual origina la corriente de potasio IKr y en los humanos tiene una importante función en la fase repolarización del potencial de acción cardiaco.
BARRALES FUENTES, BALDUINO; 782084, Barrales Fuentes, Balduino   +1 more
core  

Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.: Characterizing novel KCNH2 mutations

, 2009
International audienceBACKGROUND: Long QT syndrome (LQTS) is characterized by corrected QT interval prolongation leading to torsades de pointes and sudden cardiac death. LQTS type 2 (LQTS2) is caused by mutations in the KCNH2 gene, leading to a reduction
Ficker, Eckhard, Chahine, Mohamed, Christé, Georges, Grenier, Julie, Keller, Dagmar, Osswald, Stephan, Dubouloz, Frédérique, Brink, Marijke   +7 more
core   +1 more source

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases

, 2012
INTRODUCTION: Sudden unexplained death account for one-third of all sudden natural deaths in the young (1-35 years). Hitherto, the prevalence of genopositive cases has primarily been based on deceased persons referred for postmortem genetic testing ...
Wang, Yinman, Nissen, Peter Henrik, Hollegaard, Mads Vilhelm, Jespersen, Thomas, Nielsen, Nikolaj, Svendsen, Jesper Hastrup, Tfelt-Hansen, Jacob, Haunsø, Stig, Yuan, Lei, Kristensen, Ingrid Bayer, Larsen, Maiken Kudahl, Olesen, Morten Salling, Berge, Knut Erik, Winkel, Bo Gregers, Leren, Trond Paul, Jensen, Henrik Kjaerulf, Banner, Jytte   +16 more
core   +1 more source

Potassium channel Kv11.1 (KCNH2; ERG) [PDF]

Science-Business eXchange, 2012
openaire   +1 more source

MeTAL enables multiparametric risk prediction for human KCNH2 variants

Abstract Background Clinical interpretation of missense variants in the hERG potassium channel encoded by the KCNH2 gene remains a major challenge in inherited arrhythmia syndromes.
Barbara Ribeiro de Oliveira, Elouan Voisin, Maxence Marbouty, Achille Gregoire, Malak Alameh, Jérôme Montnach, Aurélie Thollet, Flavien Charpentier, Isabelle Denjoy, Vincent Probst, Gildas Loussouarn, Isabelle Baró, Michel De Waard, Rupamanjari Majumder   +13 more
openaire   +2 more sources

The silent storm: Quinine-induced Torsade de Pointes unmasking a latent KCNH2 variant. [PDF]

Glob Cardiol Sci Pract
Morais H, Vicente M, David C, Caceres-Loriga FM.   +3 more
europepmc   +1 more source

Novel <i>TBX20</i> Variations Susceptible to Sporadic Atrial Fibrillation. [PDF]

Biomedicines
Xu ZY, Zhang DL, Qiu XB, Yang CX, Xu YJ, Yang YQ, Li N.   +6 more
europepmc   +1 more source