Results 81 to 90 of about 4,944 (184)

Resuscitated sudden cardiac death in Andersen-Tawil syndrome. [PDF]

Heart Rhythm, 2009
Andersen-Tawil Syndrome (ATS) is an autosomal dominant or sporadic disorder characterized by ventricular arrhythmias, periodic paralysis and distinctive facial and skeletal dysmorphology [1-3]. ATS is notable for its variable penetrance (not all subjects manifest all three phenotypes) and variable expressivity (the severity of the expressed phenotype ...
Airey KJ, Etheridge SP, Tawil R, Tristani-Firouzi M.   +3 more
europepmc   +4 more sources

Andersen–Tawil syndrome

Neurology, 2005
To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom.Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2.
Davies, N. P., Fialho, D., Herd, C., Bilsland, L. G., Weber, A., Mueller, R., Hilton Jones, D., Ealing, J., Boothman, B. R., Giunti, P., Parsons, L. M., Thomas, M., Manzur, A. Y., Jurkat Rott, K., Lehmann Horn, F., Chinnery, P. F., Rose, M., Kullmann, D. M., Hanna, M. G., IMBRICI, Paola   +19 more
openaire   +4 more sources

Andersen-Tawil syndrome — Periodic paralysis with dysmorphism

Indian Pediatrics, 2011
Andersen Tawil syndrome is a rare type of channelopathy characterized by the presence of periodic paralysis, cardiac arrhythmia (prolonged QT interval or ventricular arrhythmia) and distinct dysmorphic abnormalities. It is a type of potassium channelopathy that occurs sporadically or by autosomal dominant inheritance.
Mahesh, Kamate, Vivek, Chetal
openaire   +2 more sources

Severe exacerbation of Andersen–Tawil syndrome secondary to thyrotoxicosis [PDF]

Journal of Human Genetics, 2014
Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of weakness. Although TPP has been described in patients all over the world, it is especially frequent in Asiatic patients. Recently, two genomewide association studies have found a susceptibility locus on chromosome 17q24.3 near the KCNJ2 gene ...
Diaz-Manera J, Querol L, Alejaldre A, Rojas-Garcia R, Ramos-Fransi A, Gallardo E, Illa I   +6 more
openaire   +4 more sources

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi   +7 more
doaj   +1 more source

Hypokalemic Paralysis Is Not Always Periodic: A Case Series

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Potassium is vital for cellular function, particularly in excitable tissues like nerves and muscles, which rely on potassium gradients to function normally. Hypokalemia can lead to severe issues such as muscle weakness and irregular heart rhythms. This case series presents four instances of hypokalemic paralysis, a neuromuscular condition that can be ...
Mohak Jain, Gaurav Mehta, Ajay Parmar, Minal Shastri, Sahaj Patel, Vidhi Gandhi, Shifa Karatela, Apurva Patel, Poulami Jha   +8 more
wiley   +1 more source

Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?

Türk Kardiyoloji Derneği Arşivi, 2018
Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities.
Yakup Ergül, Senem Özgür, Sertaç Hanedan Onan, Volkan Tuzcu   +3 more
doaj   +1 more source

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation [PDF]

, 2017
Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death. Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups. To further define the
A Deshmukh, Albert Hofman, Albert Sun, Albert V Smith, Alex P Reiner, Alexander Teumer, Alexandre Pereira, Alfredo J Mansur, Alvaro Alonso, Anders Hamsten, Andre G Uitterlinden, Andrea R V R Horimoto, Andrew P Morris, Annette Peters, AP Boyle, Archie Campbell, Bastiaan Geelhoed, Blair H Smith, Bradford B Worrall, Bruce M Psaty, Bruno H Stricker, Carolina Roselli, Caroline Hayward, Cecilia M Lindgren, Charles Kooperberg, Christian Shaffer, Christine M Albert, Christopher D Anderson, Christopher Newton-Cheh, CJ Hoggart, CJ Willer, Claudia Schurmann, CT January, D Welter, Dan E Arking, Dan M Roden, Daniel I Chasman, Daniel J Rader, David Conen, David Porteous, David R Van Wagoner, Dawood Darbar, Derek Klarin, DF Gudbjartsson, DF Gudbjartsson, DF Seals, DM Lloyd-Jones, E Eden, Efthymia Vlachopoulou, EJ Benjamin, Elsayed Z Soliman, Emelia J Benjamin, Eric Boerwinkle, Erik Ingelsson, Erwin B Bottinger, F Dudbridge, Farid Radmanesh, G Laumet, Ganesh Chauhan, Graciela Delgado, Guillaume Paré, H Holm, Henry J Lin, Honghuang Lin, I Pe'er, Ian Ford, Ilkka Seppälä, Ingrid E Christophersen, J Gustav Smith, J Wouter Jukema, J Yang, Jan Heeringa, Jared W Magnani, Jari Laurikka, Jeffrey Haessler, Jemma C Hopewell, Jennifer A Brody, Jennifer Huffman, Jennifer Kriebel, Jerome I Rotter, Jie Huang, Jie Yao, John Barnard, Jonathan D Smith, Jonathan Rosand, Jorge A Wong, Jose E Krieger, Joshua C Bis, Joshua C Denny, Joylene E Siland, Juha Sinisalo, Jussi Hernesniemi, Karl-Heinz Jöckel, Kathryn L Lunetta, Kent D Taylor, Kjell Nikus, Lars Lannfelt, Lars Lind, LD Ward, Lenore J Launer, Leo-Pekka Lyytikäinen, Lewin Eisele, Lin Y Chen, Lorenz Risch, Lu-Chen Weng, Lynne J Hocking, M Arnold, M Benjamin Shoemaker, Maartje N Niemeijer, Man Li, Marco Perez, Marcus Dörr, Marcus E Kleber, Marina Arendt, Marja-Liisa Lokki, Marju Orho-Melander, Mark Chaffin, Markku Eskola, Martin Dichgans, Martina Müller-Nurasyid, Melanie Waldenberger, MF Sinner, Michiaki Kubo, Michiel Rienstra, Mika Kähönen, Mina K Chung, Molong Li, Moritz F Sinner, MR Nelson, Nancy L Pedersen, Natalia Rost, Nathan A Bihlmeyer, Nathan R Tucker, Niek Verweij, Nona Sotoodehnia, Olle Melander, Oscar H Franco, P Cejudo-Martin, P Weeke, Patrick T Ellinor, Patrik K Magnusson, Paul L Huang, Paul M Ridker, PC Sham, Peter Almgren, Peter E Weeke, Peter Lichtner, Peter W Macfarlane, Pim van der Harst, PT Ellinor, PT Ellinor, Qiong Yang, R Malik, Rainer Malik, Rajat Deo, RJ Pruim, Roopinder K Sandhu, Ruth J F Loos, S Kuriyama, S Lee, S Purcell, Sandosh Padmanabhan, Sebastian Clauss, Sekar Kathiresan, Seung Hoan Choi, Siegfried Perz, Siew-Kee Low, SS Chugh, ST Sherry, Stefan Gustafsson, Stefan Kääb, Stefan Weiss, Stefanie Aeschbacher, Stefanie Heilmann-Heimbach, Stella Trompet, Stephan B Felix, Stephanie Debette, Steven A Lubitz, Stuart A Scott, Susan R Heckbert, Svati H Shah, Sébastien Thériault, Tamara B Harris, Terho Lehtimäki, TH Pers, TH Pers, Toshihiro Tanaka, Traci M Bartz, Uwe Völker, Vilmundur Gudnason, Winfried März, Xiaoyan Yin, Xiuqing Guo, Y Benjamini, Yanick P Hagemeijer, Yii-Der Ida Chen, Yingchang Lu, Yoichiro Kamatani   +197 more
core   +9 more sources

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature

Italian Journal of Pediatrics, 2022
Background Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic ...
Maria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, Flaminia Pugnaloni, Massimiliano Corsino, Melania Evangelisti, Maria Cecilia D’Asdia, Giovanni Di Nardo, Matteo Garibaldi, Gianluca Terrin, Pasquale Parisi   +10 more
doaj   +1 more source

Three dimensional modelling of mutant Kir2.1 channel PIP2 interactions help stratify arrhythmia severity in Andersen Tawil syndrome type 1

European Heart Journal, 2022
Andersen-Tawil type 1 (ATS1) is associated with loss-of-function mutations in the inward rectifier potassium channel Kir2.1, which controls cardiac excitability and impulse conduction.
L. K. Gutierrez-Espinosa de los Monteros, F. Martínez, F. M. Cruz, A. Moreno-Manuel, P. Sanchez, M. L. Vera-Pedrosa, I. Martínez-Carrascoso, F. Bermúdez-Jiménez, Á. Macías, J. Jalife   +9 more
semanticscholar   +1 more source