Igor Splawski

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 297:1333-6. 2002
  2. ncbi request reprint Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Cell 119:19-31. 2004
  3. pmc Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    Igor Splawski
    Howard Hughes Medical Institute, Department of Cardiology, and Genomics Program and Division of Genetics, Children s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:8089-96; discussion 8086-8. 2005
  4. ncbi request reprint CACNA1H mutations in autism spectrum disorders
    Igor Splawski
    Howard Hughes Medical Institute, Department of Cardiology, Children s Hospital, Boston, Massachusetts 02115, USA
    J Biol Chem 281:22085-91. 2006
  5. doi request reprint TRPM1 forms ion channels associated with melanin content in melanocytes
    Elena Oancea
    Howard Hughes Medical Institute, Department of Cardiology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Sci Signal 2:ra21. 2009
  6. ncbi request reprint An intronic mutation causes long QT syndrome
    Li Zhang
    LDS Hospital, Salt Lake City, Utah 84103, USA
    J Am Coll Cardiol 44:1283-91. 2004
  7. pmc A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
    Peter J Mohler
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 101:9137-42. 2004
  8. ncbi request reprint Compound mutations: a common cause of severe long-QT syndrome
    Peter Westenskow
    Department of Physiology, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112 5000, USA
    Circulation 109:1834-41. 2004
  9. ncbi request reprint Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome
    Niels Decher
    Nora Eccles Harrison CVRTI and Department of Physiology, University of Utah, Salt Lake City, UT 84112, USA
    Cardiovasc Res 75:748-57. 2007
  10. ncbi request reprint 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
    Michael J Ackerman
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:600-7. 2004

Detail Information

Publications10

  1. ncbi request reprint Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Science 297:1333-6. 2002
    ..However, Y1102 may be a useful molecular marker for the prediction of arrhythmia susceptibility in the context of additional acquired risk factors such as the use of certain medications...
  2. ncbi request reprint Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    Igor Splawski
    Department of Cardiology, Children s Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Cell 119:19-31. 2004
    ..These discoveries establish the importance of Ca(V)1.2 in human physiology and development and implicate Ca(2+) signaling in autism...
  3. pmc Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    Igor Splawski
    Howard Hughes Medical Institute, Department of Cardiology, and Genomics Program and Division of Genetics, Children s Hospital, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 102:8089-96; discussion 8086-8. 2005
    ..These data indicate that gain-of-function mutations of CaV1.2 exons 8 and 8A cause distinct forms of TS...
  4. ncbi request reprint CACNA1H mutations in autism spectrum disorders
    Igor Splawski
    Howard Hughes Medical Institute, Department of Cardiology, Children s Hospital, Boston, Massachusetts 02115, USA
    J Biol Chem 281:22085-91. 2006
    ..2 channel activity and thus could affect neuronal function and potentially brain development. We conclude that the identified mutations could contribute to the development of the ASD phenotype...
  5. doi request reprint TRPM1 forms ion channels associated with melanin content in melanocytes
    Elena Oancea
    Howard Hughes Medical Institute, Department of Cardiology, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Sci Signal 2:ra21. 2009
    ..We propose that TRPM1 is an ion channel whose function is critical to normal melanocyte pigmentation and is thus a potential target for pigmentation disorders...
  6. ncbi request reprint An intronic mutation causes long QT syndrome
    Li Zhang
    LDS Hospital, Salt Lake City, Utah 84103, USA
    J Am Coll Cardiol 44:1283-91. 2004
    ..The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing mutation, and if expanded phenotyping criteria produce improved identification of long QT syndrome (LQTS) patients...
  7. pmc A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
    Peter J Mohler
    Howard Hughes Medical Institute and Department of Cell Biology, Duke University Medical Center, Durham, NC 27710, USA
    Proc Natl Acad Sci U S A 101:9137-42. 2004
    ....
  8. ncbi request reprint Compound mutations: a common cause of severe long-QT syndrome
    Peter Westenskow
    Department of Physiology, University of Utah, 95 South 2000 East, Salt Lake City, UT 84112 5000, USA
    Circulation 109:1834-41. 2004
    ..Although most LQTS individuals do not have cardiac events, significant phenotypic variability exists within families. Probands can be very symptomatic. The mechanism of this phenotypic variability is not understood...
  9. ncbi request reprint Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome
    Niels Decher
    Nora Eccles Harrison CVRTI and Department of Physiology, University of Utah, Salt Lake City, UT 84112, USA
    Cardiovasc Res 75:748-57. 2007
    ..We identified two unrelated patients with mutations in the slide helix of Kir2.1 leading to AS. The functional consequences of these two mutations, Y68D and D78Y, were studied and compared with previously reported slide helix mutations...
  10. ncbi request reprint 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
    Michael J Ackerman
    Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 1:600-7. 2004
    ..The purpose of this study was to determine the prevalence and spectrum of nonsynonymous polymorphisms (amino acid variants) in the cardiac sodium channel among healthy subjects...