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Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Splawski I, et al. Among authors: keating mt. Proc Natl Acad Sci U S A. 2005 Jun 7;102(23):8089-96; discussion 8086-8. doi: 10.1073/pnas.0502506102. Epub 2005 Apr 29. Proc Natl Acad Sci U S A. 2005. PMID: 15863612 Free PMC article.
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.
Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett V. Mohler PJ, et al. Among authors: keating mt. Proc Natl Acad Sci U S A. 2004 Jun 15;101(24):9137-42. doi: 10.1073/pnas.0402546101. Epub 2004 Jun 3. Proc Natl Acad Sci U S A. 2004. PMID: 15178757 Free PMC article.
CACNA1H mutations in autism spectrum disorders.
Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. Splawski I, et al. Among authors: keating mt. J Biol Chem. 2006 Aug 4;281(31):22085-22091. doi: 10.1074/jbc.M603316200. Epub 2006 Jun 5. J Biol Chem. 2006. PMID: 16754686 Free article.
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT. Splawski I, et al. Among authors: keating mt. Science. 2002 Aug 23;297(5585):1333-6. doi: 10.1126/science.1073569. Science. 2002. PMID: 12193783
125 results