Literature DB >> 22980924

Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome.

Nicola Detta, Giulia Frisso, Alberto Zullo, Berardo Sarubbi, Carla Cozzolino, Emanuele Romeo, Dao W Wang, Raffaele Calabrò, Francesco Salvatore, Alfred L George.   

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Year:  2012        PMID： 22980924      PMCID： PMC3538169          DOI： 10.1016/j.ijcard.2012.08.032

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  18 in total

1.  Amino acid residues required for fast Na(+)-channel inactivation: charge neutralizations and deletions in the III-IV linker.

Authors:  D E Patton; J W West; W A Catterall; A L Goldin
Journal:  Proc Natl Acad Sci U S A       Date:  1992-11-15       Impact factor: 11.205

2.  Statement on authorship and publishing ethics in the International Journal of Cardiology.

Authors:  Andrew J S Coats; Louise G Shewan
Journal:  Int J Cardiol       Date:  2011-12-15       Impact factor: 4.164

3.  Knock-in gain-of-function sodium channel mutation prolongs atrial action potentials and alters atrial vulnerability.

Authors:  Andreas Blana; Sven Kaese; Lisa Fortmüller; Sandra Laakmann; Dierk Damke; Kelly van Bragt; Jens Eckstein; Ilaria Piccini; Uwe Kirchhefer; Stanley Nattel; Günter Breithardt; Peter Carmeliet; Edward Carmeliet; Ulrich Schotten; Sander Verheule; Paulus Kirchhof; Larissa Fabritz
Journal:  Heart Rhythm       Date:  2010-08-19       Impact factor: 6.343

Review 4.  Inherited disorders of voltage-gated sodium channels.

Authors:  Alfred L George
Journal:  J Clin Invest       Date:  2005-08       Impact factor: 14.808

5.  Efficacy of pharmacological treatment and genetic characterization in early diagnosed patients affected by long QT syndrome with impaired AV conduction.

Authors:  B Sarubbi; G Frisso; E Romeo; E Evangelista; A Cordella; M D'Alto; G Santarpia; M G Russo; F Salvatore; R Calabrò
Journal:  Int J Cardiol       Date:  2011-04-09       Impact factor: 4.164

6.  A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.

Authors:  Dagmar I Keller; Said Acharfi; Etienne Delacrétaz; Nawal Benammar; Martin Rotter; Jean Pierre Pfammatter; Véronique Fressart; Pascale Guicheney; Mohamed Chahine
Journal:  J Mol Cell Cardiol       Date:  2003-12       Impact factor: 5.000

7.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

8.  Molecular mechanism for an inherited cardiac arrhythmia.

Authors:  P B Bennett; K Yazawa; N Makita; A L George
Journal:  Nature       Date:  1995-08-24       Impact factor: 49.962

9.  Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.

Authors:  Augustus O Grant; Michael P Carboni; Valentina Neplioueva; C Frank Starmer; Mirella Memmi; Carlo Napolitano; Silvia Priori
Journal:  J Clin Invest       Date:  2002-10       Impact factor: 14.808

10.  Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

Authors:  D Woodrow Benson; Dao W Wang; Macaira Dyment; Timothy K Knilans; Frank A Fish; Margaret J Strieper; Thomas H Rhodes; Alfred L George
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808
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  4 in total

Review 1.  Dysfunctional Nav1.5 channels due to SCN5A mutations.

Authors:  Dan Han; Hui Tan; Chaofeng Sun; Guoliang Li
Journal:  Exp Biol Med (Maywood)       Date:  2018-05-27

2.  Inhibition of late sodium current via PI3K/Akt signaling prevents cellular remodeling in tachypacing-induced HL-1 atrial myocytes.

Authors:  Tae Hee Ko; Daun Jeong; Byeongil Yu; Ji Eun Song; Qui Anh Le; Sun-Hee Woo; Jong-Il Choi
Journal:  Pflugers Arch       Date:  2022-10-24       Impact factor: 4.458

3.  Allelic Complexity in Long QT Syndrome: A Family-Case Study.

Authors:  Alberto Zullo; Giulia Frisso; Nicola Detta; Berardo Sarubbi; Emanuele Romeo; Angela Cordella; Carlos G Vanoye; Raffaele Calabrò; Alfred L George; Francesco Salvatore
Journal:  Int J Mol Sci       Date:  2017-07-27       Impact factor: 5.923

4.  QT prolongation is associated with increased mortality in end stage liver disease.

Authors:  Sun Moon Kim; Bennet George; Diego Alcivar-Franco; Charles L Campbell; Richard Charnigo; Brian Delisle; Jonathan Hundley; Yousef Darrat; Gustavo Morales; Samy-Claude Elayi; Alison L Bailey
Journal:  World J Cardiol       Date:  2017-04-26
  4 in total

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