Jonathan Makielski

Summary

Affiliation: University of Wisconsin
Country: USA

Publications

  1. ncbi request reprint Intrinsic lidocaine affinity for Na channels expressed in Xenopus oocytes depends on alpha (hH1 vs. rSkM1) and beta 1 subunits
    J C Makielski
    Department of Medicine, University of Wisconsin, Madison 53792, USA
    Cardiovasc Res 42:503-9. 1999
  2. pmc SIDS: genetic and environmental influences may cause arrhythmia in this silent killer
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section and Department of Physiology, University of Wisconsin, Madison, Wisconsin 53792, USA
    J Clin Invest 116:297-9. 2006
  3. ncbi request reprint A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
    Jonathan C Makielski
    Department of Medicine, University of Wisconsin, 600 Highland Ave H6 349, Madison, Wis 53792, USA
    Circ Res 93:821-8. 2003
  4. pmc Ranolazine and late cardiac sodium current--a therapeutic target for angina, arrhythmia and more?
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison, WI 53705, USA
    Br J Pharmacol 148:4-6. 2006
  5. ncbi request reprint Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine
    Bi Hua Tan
    Dept of Medicine, Univ of Wisconsin, 600 Highland Ave H6 349, Madison, WI 53792, USA
    Am J Physiol Heart Circ Physiol 291:H1822-8. 2006
  6. ncbi request reprint Na(+) current in human ventricle: implications for sodium loading and homeostasis
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison, Wisconsin 53792, USA
    J Cardiovasc Electrophysiol 17:S15-S20. 2006
  7. pmc Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current
    Jianding Cheng
    Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA
    Circ Arrhythm Electrophysiol 2:667-76. 2009
  8. ncbi request reprint A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs
    Carmen R Valdivia
    Department of Medicine and Physiology, University of Wisconsin, Madison, WI, USA
    Cardiovasc Res 62:53-62. 2004
  9. pmc Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
    David J Tester
    Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Heart Rhythm 7:912-9. 2010
  10. pmc Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    Kazuo Ueda
    Department of Medicine, University of Wisconsin, Madison, WI 53792, USA
    Proc Natl Acad Sci U S A 105:9355-60. 2008

Research Grants

  1. Molecular Regulation - Cardiac KATP Channels in Ischemia
    Jonathan Makielski; Fiscal Year: 2006
  2. Cellular & Clinical Phenotypes of Novel SCN5a Mutations
    Jonathan Makielski; Fiscal Year: 2006
  3. TRAINING PROGRAM IN TRANSLATIONAL CARDIOVASCULAR SCIENCE
    Jonathan Makielski; Fiscal Year: 2007
  4. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan Makielski; Fiscal Year: 2009
  5. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan C Makielski; Fiscal Year: 2010
  6. MOLECULAR REGULATION--CARDIAC K+ATP CHANNELS IN ISCHEMIA
    Jonathan Makielski; Fiscal Year: 2001
  7. REGULATION OF LATE INWARD CURRENT IN HUMAN HEART FAILURE
    Jonathan Makielski; Fiscal Year: 2003
  8. Cellular and clinical phenotypes of novel SCN5a mutations
    Jonathan C Makielski; Fiscal Year: 2010

Collaborators

Detail Information

Publications43

  1. ncbi request reprint Intrinsic lidocaine affinity for Na channels expressed in Xenopus oocytes depends on alpha (hH1 vs. rSkM1) and beta 1 subunits
    J C Makielski
    Department of Medicine, University of Wisconsin, Madison 53792, USA
    Cardiovasc Res 42:503-9. 1999
    ..Inactivation kinetics, however, depend upon the alpha-subunit isoform and the presence of the auxiliary beta 1-subunit and will affect measures of block...
  2. pmc SIDS: genetic and environmental influences may cause arrhythmia in this silent killer
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section and Department of Physiology, University of Wisconsin, Madison, Wisconsin 53792, USA
    J Clin Invest 116:297-9. 2006
    ....
  3. ncbi request reprint A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
    Jonathan C Makielski
    Department of Medicine, University of Wisconsin, 600 Highland Ave H6 349, Madison, Wis 53792, USA
    Circ Res 93:821-8. 2003
    ..These results have implications for the choice of background sequence for experiments with heterologous expression systems, and possibly implications for electrophysiological function in vivo...
  4. pmc Ranolazine and late cardiac sodium current--a therapeutic target for angina, arrhythmia and more?
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison, WI 53705, USA
    Br J Pharmacol 148:4-6. 2006
    ..This commentary discusses the implications of that study and the background and implications for block of late cardiac sodium current in general...
  5. ncbi request reprint Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine
    Bi Hua Tan
    Dept of Medicine, Univ of Wisconsin, 600 Highland Ave H6 349, Madison, WI 53792, USA
    Am J Physiol Heart Circ Physiol 291:H1822-8. 2006
    ..These data show that a trafficking defect may be partial and time dependent and may differ with the splice variant background. Also, expression defects and gating abnormalities may contribute to loss of function for the same mutation...
  6. ncbi request reprint Na(+) current in human ventricle: implications for sodium loading and homeostasis
    Jonathan C Makielski
    Department of Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison, Wisconsin 53792, USA
    J Cardiovasc Electrophysiol 17:S15-S20. 2006
    ....
  7. pmc Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current
    Jianding Cheng
    Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA
    Circ Arrhythm Electrophysiol 2:667-76. 2009
    ..This study determined the prevalence and functional properties of SIDS-associated SNTA1 mutations...
  8. ncbi request reprint A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs
    Carmen R Valdivia
    Department of Medicine and Physiology, University of Wisconsin, Madison, WI, USA
    Cardiovasc Res 62:53-62. 2004
    ..Mutations in SCN5A cause arrhythmia syndromes including Brugada syndrome (BrS) and congenital long QT syndrome subtype 3 (LQT3). Here, we report a trafficking defective BrS-causing SCN5A mutation that was drug-rescued...
  9. pmc Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation
    David J Tester
    Department of Medicine, Mayo Clinic, Rochester, Minnesota, USA
    Heart Rhythm 7:912-9. 2010
    ..Considering that approximately 2% of Caucasian controls host rare, nonsynonymous variants in the SCN5A-encoded cardiac sodium channel, caution must be exercised when interpreting SCN5A genetic test results for long QT syndrome (LQTS)...
  10. pmc Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    Kazuo Ueda
    Department of Medicine, University of Wisconsin, Madison, WI 53792, USA
    Proc Natl Acad Sci U S A 105:9355-60. 2008
    ..These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare LQTS-susceptibility gene...
  11. pmc KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties
    Lee L Eckhardt
    Department of Medicine Cardiovascular Medicine, University of Wisconsin, Madison, WI 53792, USA
    Heart Rhythm 4:323-9. 2007
    ..Do KCNJ2 mutations occur in patients lacking this triad and lacking a family history of ATS?..
  12. pmc GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A
    Carmen R Valdivia
    Department of Medicine, University of Wisconsin Madison, Madison, Wisconsin, USA
    Am J Physiol Heart Circ Physiol 297:H1446-52. 2009
    ....
  13. ncbi request reprint A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation
    Bin Ye
    Department of Medicine and Physiology, University of Wisconsin, Madison, Wisconsin 53792, USA
    Physiol Genomics 12:187-93. 2003
    ..These results show that the choice of background clone must be carefully considered in mutagenesis studies. This also represents an example of intragenic complementation, the first for such a large protein...
  14. ncbi request reprint Rate-dependent QT shortening mechanism for the LQT3 deltaKPQ mutant
    Toshihisa Nagatomo
    Department of Medicine, Cardiology Section, University of Wisconsin, Madison, WI 53792, USA
    Cardiovasc Res 54:624-9. 2002
    ..We hypothesized that the rate-dependent shortening of the QT interval may be attributed to the kinetic properties of inactivation the late sodium current (I(Na)) in LQT3...
  15. ncbi request reprint Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    Bi Hua Tan
    Department of Medicine, Cardiovascular Section, University of Wisconsin, Madison, Wisconsin 53792, USA
    Heart Rhythm 2:741-7. 2005
    ....
  16. pmc Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    Carmen R Valdivia
    Department of Medicine, Cardiovascular Section, and the Cardiac Molecular Arrhythmias Research Program, University of Wisconsin Madison, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    Cardiovasc Res 86:392-400. 2010
    ..5 is regulated by four sodium channel auxiliary beta subunits. Here, we report a case with IVF and a novel mutation in the SCN3B-encoded sodium channel beta subunit Navbeta3 that causes a loss of function of Nav1.5 channels in vitro...
  17. pmc A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
    Bi Hua Tan
    Department of Medicine, Cardiovascular Section, University of Wisconsin Madison, 600 Highland Ave H6 349, Madison, WI 53792, USA
    Cardiovasc Res 76:409-17. 2007
    ..Here we report a family harboring an SCN5A mutation (L1821fs/10) causing a truncation of the C-terminus with a marked and complex biophysical phenotype and a corresponding variable and complex clinical phenotype with variable penetrance...
  18. ncbi request reprint A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine
    Carmen R Valdivia
    Departments of Medicine and Physiology, University of Wisconsin, Madison, WI, USA
    Cardiovasc Res 55:279-89. 2002
    ..Mutations in the cardiac sodium channel gene, SCN5A, cause congenital long QT syndrome (LQT3), Brugada syndrome, idiopathic ventricular fibrillation, and conduction disease by distinct cellular and clinical electrophysiological phenotypes...
  19. pmc Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia
    Amanda L Vega
    Department of Medicine, University of Wisconsin, Madison, Wisconsin 53792, USA
    Circ Arrhythm Electrophysiol 2:540-7. 2009
    ..The aim of this study was to characterize the biophysical and cellular phenotype of a KCNJ2 missense mutation, V227F, found in a patient with catecholaminergic polymorphic ventricular tachycardia...
  20. pmc Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A
    Argelia Medeiros-Domingo
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota 55905, USA
    Heart Rhythm 6:1170-5. 2009
    ....
  21. pmc Molecular identification and functional characterization of a mitochondrial sulfonylurea receptor 2 splice variant generated by intraexonic splicing
    Bin Ye
    Department of Medicine, University of Wisconsin, Madison, WI 53706, USA
    Circ Res 105:1083-93. 2009
    ..Cardioprotective pathways may involve a mitochondrial ATP-sensitive potassium (mitoK(ATP)) channel but its composition is not fully understood...
  22. ncbi request reprint Increased late sodium current in myocytes from a canine heart failure model and from failing human heart
    Carmen R Valdivia
    Departments of Medicine, Surgery and Physiology, University of Wisconsin Hospital and Clinics, University of Wisconsin, 600 Highland Avenue H6 349, Madison, WI 53792, USA
    J Mol Cell Cardiol 38:475-83. 2005
    ..We conclude that a peak I(Na) is decreased, and non-inactivating late I(Na) is increased in heart failure and this may contribute to action potential prolongation and the generation of arrhythmia...
  23. ncbi request reprint Late Na currents affected by alpha subunit isoform and beta1 subunit co-expression in HEK293 cells
    Carmen R Valdivia
    Departments of Medicine and Physiology, University of Wisconsin, 600 Highland Avenue, Madison, WI 53792, USA
    J Mol Cell Cardiol 34:1029-39. 2002
    ..These properties may provide mechanisms for regional and transmural distribution of late Na current and late Na current amplitudes during development and in disease states...
  24. ncbi request reprint Specific serine proteases selectively damage KCNH2 (hERG1) potassium channels and I(Kr)
    Sridharan Rajamani
    Department of Medicine Cardiology, University of Wisconsin, Madison 53792, USA
    Am J Physiol Heart Circ Physiol 290:H1278-88. 2006
    ....
  25. ncbi request reprint Function and distribution of the SUR isoforms and splice variants
    Nian Qing Shi
    Department of Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison, WI 53705, USA
    J Mol Cell Cardiol 39:51-60. 2005
    ..x subunits. The different isoforms and splice variants allow for many K(ATP) channel combinations, and therefore, increases the channel diversity and the possibility of complexity in function...
  26. pmc Cardiac sulfonylurea receptor short form-based channels confer a glibenclamide-insensitive KATP activity
    Jie lin Pu
    Department of Medicine, University of Wisconsin, 1300, University Ave, Room 24, SMI Building, Madison, WI 53706, USA
    J Mol Cell Cardiol 44:188-200. 2008
    ..1 or Kir6.2 suggesting that the short forms may function as hemi-transporters reported in other eukaryotic ABC transporter subgroups. Our results indicate that different K(ATP) compositions may co-exist in cardiac sarcolemmal membrane...
  27. pmc The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice
    Nitin T Aggarwal
    Department of Medicine, University of Wisconsin, Madison, USA
    Am J Physiol Heart Circ Physiol 299:H1884-90. 2010
    ..These results have implications for possible SUR2 participation in mitochondrial K(ATP)...
  28. ncbi request reprint Genetic basis for the origin of cardiac arrhythmias: implications for therapy
    Mackenzi Mbai
    University of Wisconsin Hospitals and Clinics, Section of Cardiovascular Medicine, Room H6 354 CSC 3248, 600 Highland Avenue, Madison, WI 53792, USA
    Curr Cardiol Rep 4:411-7. 2002
    ..New therapies based on this evolving insight are being developed. This review summarizes recent discoveries with a focus on the genetic basis of cardiac arrhythmias and their implications for new therapies...
  29. ncbi request reprint Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome
    Yasushi Oginosawa
    Second Department of Internal Medicine, University of Occupational and Environmental Health Japan, 1 1 Iseigaoka, Yahatanishi ku, Kitakyushu 807 8555, Japan
    Cardiovasc Res 65:138-47. 2005
    ..Although the mutant channel has been characterized by inactivation gating defects, the intrinsic mechanism(s) that might explain why arrhythmia attack is most prevalent at slower heart rates has not been investigated...
  30. pmc Blockade of HERG cardiac K+ current by antifungal drug miconazole
    Kan Kikuchi
    Second Department of Internal Medicine, University of Occupational and Environmental Health Japan, Kitakyushu, Japan
    Br J Pharmacol 144:840-8. 2005
    ..Thus, miconazole prolongs the QT interval by direct inhibition of HERG channels...
  31. pmc SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
    Argelia Medeiros-Domingo
    Instituto de Investigaciones Biomedicas, Universidad Nacional Autonoma de Mexico
    Circulation 116:134-42. 2007
    ..Four different beta-subunits have been described. All are detectable in cardiac tissue, but none have yet been linked to any heritable arrhythmia syndrome...
  32. 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...
  33. ncbi request reprint The perplexing complexity of cardiac arrhythmias: beyond electrical remodeling
    Philip B Adamson
    University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    Heart Rhythm 2:650-9. 2005
    ..Approaches are recommended for future investigations focused on providing new mechanistic insights and therapeutic interventions...
  34. doi request reprint Suppression of atrial fibrillation with mexiletine pharmacotherapy in a young woman with type 1 long QT syndrome
    Malek El Yaman
    Department of Pediatrics Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905, USA
    Heart Rhythm 5:472-4. 2008
  35. pmc A mutation in telethonin alters Nav1.5 function
    Amelia Mazzone
    Enteric Neuroscience Program, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Biol Chem 283:16537-44. 2008
    ..These results suggest a new role for telethonin, namely that telethonin is a sodium channel-interacting protein. Also, mutations in telethonin can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction...
  36. ncbi request reprint The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population
    Zhiyu Zeng
    Center for Arrhythmia Diagnosis and Treatment, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Cardiology 108:97-103. 2007
    ..1% respectively, OR = 1.66, p = 0.044). We provided the frequencies of non-synonymous SNPs of KCNQ1 and KCNE1 in Chinese population; none of these SNPs was associated with AF. But KCNE4 E145D may be associated with the AF phenotype...
  37. ncbi request reprint Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    Matteo Vatta
    Department of Pediatrics Cardiology, Baylor College of Medicine, Texas Children s Hospital, Houston, TX 77030, USA
    Circulation 114:2104-12. 2006
    ....
  38. pmc Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome
    David W Van Norstrand
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN 55905, USA
    Circulation 116:2253-9. 2007
    ..We hypothesized that mutations in GPD1-L may be responsible for some cases of sudden unexplained death/sudden infant death syndrome...
  39. pmc Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3
    Lisa B Cronk
    Mayo Medical School, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 4:161-6. 2007
    ..We recently established CAV3-encoded caveolin-3 as a novel LQTS-associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype...
  40. ncbi request reprint Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affe
    Stephan E Lehnart
    Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, College of Physicians and Surgeons of Columbia University, P and S 9 401 box 22, 630 W 168 St, New York, NY 10032, USA
    Circulation 116:2325-45. 2007
    ....
  41. ncbi request reprint Arrhythmia mutations in non-coding region of SCN5A: implications for genetic screening
    Jonathan C Makielski
    J Mol Cell Cardiol 38:551-3. 2005
  42. pmc Mice lacking sulfonylurea receptor 2 (SUR2) ATP-sensitive potassium channels are resistant to acute cardiovascular stress
    Douglas Stoller
    Committee on Cell Physiology, The University of Chicago, Chicago, IL 60637, USA
    J Mol Cell Cardiol 43:445-54. 2007
    ..We conclude that conventional sarcolemmal cardiomyocyte K(ATP) channels containing full-length SUR2 are not required for mediating the response to acute cardiovascular stress...
  43. ncbi request reprint Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing
    David J Tester
    Department of Molecular Pharmacology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    Heart Rhythm 3:800-5. 2006
    ..Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively)...

Research Grants25

  1. Molecular Regulation - Cardiac KATP Channels in Ischemia
    Jonathan Makielski; Fiscal Year: 2006
    ..It will also provide important new information on mitochondrial structure and function in heart. ..
  2. Cellular & Clinical Phenotypes of Novel SCN5a Mutations
    Jonathan Makielski; Fiscal Year: 2006
    ..At a more basic level these "natural" experiments will contribute to understanding the structure-function relationship of this important channel. ..
  3. TRAINING PROGRAM IN TRANSLATIONAL CARDIOVASCULAR SCIENCE
    Jonathan Makielski; Fiscal Year: 2007
    ..End of Abstract) ..
  4. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan Makielski; Fiscal Year: 2009
    ..The results may suggest more specific therapeutic targets in the SUR2 variants, and it will also provide important new information on mitochondrial structure and function in heart. ..
  5. Molecular Regulation of Cardiac KATP Channels in Ischemia
    Jonathan C Makielski; Fiscal Year: 2010
    ..The results may suggest more specific therapeutic targets in the SUR2 variants, and it will also provide important new information on mitochondrial structure and function in heart. ..
  6. MOLECULAR REGULATION--CARDIAC K+ATP CHANNELS IN ISCHEMIA
    Jonathan Makielski; Fiscal Year: 2001
    ....
  7. REGULATION OF LATE INWARD CURRENT IN HUMAN HEART FAILURE
    Jonathan Makielski; Fiscal Year: 2003
    ....
  8. Cellular and clinical phenotypes of novel SCN5a mutations
    Jonathan C Makielski; Fiscal Year: 2010
    ..The results are expected to improve diagnosis of these inherited syndromes and suggest ways to treat and prevent them. ..