SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

[1]  E. Green,et al.  A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome , 1995, Cell.

[2]  D C Ward,et al.  Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21. , 1995, Cytogenetics and cell genetics.

[3]  R Horn,et al.  Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[4]  M. Keating,et al.  Isolation of P1 insert ends by direct sequencing. , 1994, BioTechniques.

[5]  A. Moss,et al.  Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity , 1994, Nature Genetics.

[6]  C Antzelevitch,et al.  Clinical relevance of cardiac arrhythmias generated by afterdepolarizations. Role of M cells in the generation of U waves, triggered activity and torsade de pointes. , 1994, Journal of the American College of Cardiology.

[7]  H. Lerche,et al.  Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III‐IV linker. , 1993, The Journal of physiology.

[8]  A L Goldin,et al.  A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[9]  E. Hoffman,et al.  The genomic structure of the human skeletal muscle sodium channel gene. , 1992, Human molecular genetics.

[10]  J. Gusella,et al.  Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel , 1992, Nature Genetics.

[11]  E. Hoffman,et al.  Periodic paralysis in Quarter Horses: a sodium channel mutation disseminated by selective breeding , 1992, Nature Genetics.

[12]  M. Leppert,et al.  The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. , 1992, The New England journal of medicine.

[13]  R. Espinosa,et al.  Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3. , 1992, Genomics.

[14]  Mark Keating Linkage Analysis and Long QT Syndrome: Using Genetics to Study Cardiovascular Disease , 1992, Circulation.

[15]  M. Leppert,et al.  Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita , 1992, Neuron.

[16]  J. Haines,et al.  Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita , 1992, Cell.

[17]  R Horn,et al.  Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[18]  J. Seidman,et al.  Regional localization of the human G protein alpha i2 (GNAI2) gene: assignment to 3p21 and a related sequence (GNAI2L) to 12p12-p13. , 1992, Genomics.

[19]  E. Hoffman,et al.  A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis , 1991, Nature.

[20]  G. Lathrop,et al.  Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene , 1991, Annals of neurology.

[21]  M. Leppert,et al.  Consistent linkage of the long-QT syndrome to the Harvey ras-1 locus on chromosome 11. , 1991, American journal of human genetics.

[22]  C. Kozak,et al.  A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3. , 1991, Genomics.

[23]  Margaret Robertson,et al.  Identification of a mutation in the gene causing hyperkalemic periodic paralysis , 1991, Cell.

[24]  A. Moss,et al.  The Long QT Syndrome: Prospective Longitudinal Study of 328 Families , 1991, Circulation.

[25]  M. Leppert,et al.  Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. , 1991, Science.

[26]  F. Collins,et al.  Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. , 1991, Nucleic acids research.

[27]  J. Haines,et al.  Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. , 1990, Science.

[28]  N. Sternberg,et al.  Bacteriophage P1 cloning system for the isolation, amplification, and recovery of DNA fragments as large as 100 kilobase pairs. , 1990, Proceedings of the National Academy of Sciences of the United States of America.

[29]  F. Conti,et al.  Structural parts involved in activation and inactivation of the sodium channel , 1989, Nature.

[30]  T. Sekiya,et al.  Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[31]  L. Weinstein,et al.  Cloning and characterization of the human gene for the α‐subunit of Gi2, a GTP‐binding signal transduction protein , 1988, FEBS letters.

[32]  D. Levy,et al.  Circadian variation in the incidence of sudden cardiac death in the Framingham Heart Study population. , 1987, The American journal of cardiology.

[33]  R. D'Agostino,et al.  Sudden death risk in overt coronary heart disease: the Framingham Study. , 1987, American heart journal.

[34]  J. Ott,et al.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. , 1985, American journal of human genetics.

[35]  R. Goldstein,et al.  PROARRHYTHMIC EFFECTS OF ANTIARRHYTHMIC DRUGS* , 1984, Annals of the New York Academy of Sciences.

[36]  P. Honerjäger,et al.  Cardioactive substances that prolong the open state of sodium channels. , 1982, Reviews of physiology, biochemistry and pharmacology.

[37]  A. Malliani,et al.  The long Q-T syndrome. , 1975, American heart journal.

[38]  C. Romano CONGENITAL CARDIAC ARRHYTHMIA. , 1965, Lancet.

[39]  Ward Oc A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN. , 1964 .

[40]  O. C. Ward A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN. , 1964, Journal of the Irish Medical Association.

[41]  A. Jervell,et al.  CONGENITAL DEAF‐MUTISM, FUNCTIONAL HEART DISEASE WITH PROLONGATION OF THE Q‐T INTERVAL, AND SUDDEN DEATH , 1999, American heart journal.

[42]  A. Jervell,et al.  Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval, and sudden death , 1957 .

[43]  H. Bazett,et al.  AN ANALYSIS OF THE TIME‐RELATIONS OF ELECTROCARDIOGRAMS. , 1997 .