An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

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[10]  E. Behr,et al.  The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. , 2008, The Journal of clinical investigation.

[11]  P. C. Viswanathan,et al.  Mutation in Glycerol-3-Phosphate Dehydrogenase 1–Like Gene (GPD1-L) Decreases Cardiac Na+ Current and Causes Inherited Arrhythmias , 2007, Circulation.

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[16]  J. Stephens,et al.  Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. , 2004, Heart rhythm.

[17]  G. Breithardt,et al.  Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease , 2003, Human mutation.

[18]  Marc Gewillig,et al.  A Novel mutation L619F in the cardiac Na+ channel SCN5A associated with long‐QT syndrome (LQT3): a role for the I‐II linker in inactivation gating , 2003, Human mutation.

[19]  Peter K Rogan,et al.  Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations. , 2003, Pharmacogenetics.

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[21]  S. Priori,et al.  Natural History of Brugada Syndrome: Insights for Risk Stratification and Management , 2002, Circulation.

[22]  S. Antonarakis,et al.  Nomenclature for the description of human sequence variations , 2001, Human Genetics.

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[27]  D M Roden,et al.  Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. , 1999, Circulation.

[28]  P. Coumel,et al.  Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. , 1999, Circulation research.

[29]  M. Keating,et al.  Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. , 1998, Genomics.

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[31]  J. Balser,et al.  Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. , 1998, Circulation.

[32]  Z. Li,et al.  Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. , 1996, Genomics.

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[37]  Charles Antzelevitch,et al.  The Brugada syndrome. , 2002, Current opinion in cardiology.