PMC Links for Books (Select 1468160) - PMC

Select item 69322931.

Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen‐Tawil Syndrome

E. Fernlund, C. Lundin, E. Hertervig, O. Kongstad, M. Alders, P. Platonov

Ann Noninvasive Electrocardiol. 2013 Sep; 18(5): 471–478. Published online 2013 Sep 16. doi: 10.1111/anec.12074

PMCID:: PMC6932293

Select item 58672312.

Review of the Diagnosis and Treatment of Periodic Paralysis

Jeffrey M. Statland, Bertrand Fontaine, Michael G. Hanna, Nicholas E. Johnson, John T. Kissel, Valeria A. Sansone, Perry B. Shieh, Rabi N. Tawil, Jaya Trivedi, Stephen C. Cannon, Robert C. Griggs

Muscle Nerve. 2018 Apr; 57(4): 522–530. Published online 2017 Nov 29. doi: 10.1002/mus.26009

PMCID:: PMC5867231

Abstract Article PDF–173K

Select item 56145913.

Flecainide ameliorates arrhythmogenicity through NCX flux in Andersen-Tawil syndrome-iPS cell-derived cardiomyocytes

Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda

Biochem Biophys Rep. 2017 Mar; 9: 245–256. Published online 2017 Jan 11. doi: 10.1016/j.bbrep.2017.01.002

PMCID:: PMC5614591

Abstract Article PDF–1.4M

Select item 56070874.

Andersen-Tawil Syndrome: Clinical presentation and predictors of symptomatic arrhythmias - possible role of polymorphisms K897T in KCNH2 and H558R in SCN5A gene

Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl, Rafał Płoski, Maria Trusz-Gluza, Katarzyna Mizia-Stec, Piotr Hoffman

J Cardiol. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: J Cardiol. 2017 Nov; 70(5): 504–510. Published online 2017 Mar 21. doi: 10.1016/j.jjcc.2017.01.009

PMCID:: PMC5607087

Abstract Article PDF–571K

Select item 36623615.

Prevalence study of genetically defined skeletal muscle channelopathies in England

Alejandro Horga, Dipa L. Raja Rayan, Emma Matthews, Richa Sud, Doreen Fialho, Siobhan C.M. Durran, James A. Burge, Simona Portaro, Mary B. Davis, Andrea Haworth, Michael G. Hanna

Neurology. 2013 Apr 16; 80(16): 1472–1475. doi: 10.1212/WNL.0b013e31828cf8d0

PMCID:: PMC3662361

Abstract Article PDF–138K

Select item 33302186.

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, Elke Van Oudenhove, Marleen Simon, Ali Rihani, Bart Loeys, Joel Hirschhorn, Jean Pfotenhauer, John A Phillips, III, Shehla Mohammed, Caroline Ogilvie, John Crolla, Geert Mortier, Björn Menten

Eur J Hum Genet. 2012 May; 20(5): 534–539. Published online 2011 Dec 14. doi: 10.1038/ejhg.2011.239

PMCID:: PMC3330218

Abstract Article PDF–344K

Select item 32657987.

Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome

Scott B Marrus, Phillip S Cuculich, Wei Wang, Jeanne M Nerbonne

Channels (Austin) 2011 Nov-Dec; 5(6): 500–509. Published online 2011 Nov 1. doi: 10.4161/chan.5.6.18524

PMCID:: PMC3265798

Abstract Article PDF–1.9M

Select item 30514218.

Refined Exercise testing can aid DNA-based Diagnosis in Muscle Channelopathies

S. Veronica Tan, Emma Matthews, Melissa Barber, James A Burge, Sanjeev Rajakulendran, Doreen Fialho, Richa Sud, Andrea Haworth, Martin Koltzenburg, Michael G Hanna

Ann Neurol. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Ann Neurol. 2011 Feb; 69(2): 328–340. doi: 10.1002/ana.22238

PMCID:: PMC3051421

Abstract Article PDF–1.0M

Select item 30418449.

Biophysical and Molecular Characterization of a Novel de novo KCNJ2 Mutation Associated with Andersen-Tawil Syndrome and CPVT Mimicry

Hector Barajas-Martinez, Dan Hu, Gustavo Ontiveros, Gabriel Caceres, Mayurika Desai, Elena Burashnikov, Jorge Scaglione, Charles Antzelevitch

Circ Cardiovasc Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Circ Cardiovasc Genet. 2011 Feb 1; 4(1): 51–57. Published online 2010 Dec 10. doi: 10.1161/CIRCGENETICS.110.957696

PMCID:: PMC3041844

Abstract Article PDF–2.6M

Select item 288513910.

Mutations in Potassium Channel Kir2.6 Cause Susceptibility to Thyrotoxic Hypokalemic Periodic Paralysis

Devon P. Ryan, Magnus R. Dias da Silva, Tuck Wah Soong, Bertrand Fontaine, Matt R. Donaldson, Annie W.C. Kung, Wallaya Jongjaroenprasert, Mui Cheng Liang, Daphne H.C. Khoo, Jin Seng Cheah, Su Chin Ho, Harold S. Bernstein, Rui M.B. Macie, Robert H. Brown, Jr., Louis J. Ptáčcek

Cell. Author manuscript; available in PMC 2010 Jun 14.

Published in final edited form as: Cell. 2010 Jan 8; 140(1): 88–98. doi: 10.1016/j.cell.2009.12.024

PMCID:: PMC2885139

Abstract Article PDF–2.5M

Select item 278927311.

Resuscitated Sudden Cardiac Death in Andersen-Tawil Syndrome

Kelly J. Airey, Susan P. Etheridge, Rabi Tawil, Martin Tristani-Firouzi

Heart Rhythm. Author manuscript; available in PMC 2010 Dec 1.

Published in final edited form as: Heart Rhythm. 2009 Dec; 6(12): 1814–1817. Published online 2009 Aug 29. doi: 10.1016/j.hrthm.2009.08.032

PMCID:: PMC2789273

Article PDF–1.2M

Select item 37920312.

KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

Gregor Andelfinger, Andrew R. Tapper, Richard C. Welch, Carlos G. Vanoye, Alfred L. George Jr., D. Woodrow Benson

Am J Hum Genet. 2002 Sep; 71(3): 663–668. Published online 2002 Jul 29. doi: 10.1086/342360

PMCID:: PMC379203

Abstract Article PDF–442K

Select item 15108513.

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

Martin Tristani-Firouzi, Judy L. Jensen, Matthew R. Donaldson, Valeria Sansone, Giovanni Meola, Angelika Hahn, Said Bendahhou, Hubert Kwiecinski, Anna Fidzianska, Nikki Plaster, Ying-Hui Fu, Louis J. Ptacek, Rabi Tawil

J Clin Invest. 2002 Aug 1; 110(3): 381–388. doi: 10.1172/JCI15183

PMCID:: PMC151085

Abstract Article PDF–676K

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