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Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA. Priest JR, et al. Among authors: kahlig km. Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. doi: 10.1073/pnas.1607187113. Epub 2016 Sep 28. Proc Natl Acad Sci U S A. 2016. PMID: 27681629 Free PMC article.
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J, Buch T, Betzenhauser MJ, Belardinelli L, Kahlig KM, Rajamani S, DeAntonio HJ, Myerburg RJ, Ito H, Deshmukh P, Marieb M, Nam GB, Bhatia A, Hasdemir C, Haïssaguerre M, Veltmann C, Schimpf R, Borggrefe M, Viskin S, Antzelevitch C. Hu D, et al. Among authors: kahlig km. J Am Coll Cardiol. 2014 Jul 8;64(1):66-79. doi: 10.1016/j.jacc.2014.04.032. J Am Coll Cardiol. 2014. PMID: 24998131 Free PMC article.
Eleclazine, a new selective cardiac late sodium current inhibitor, confers concurrent protection against autonomically induced atrial premature beats, repolarization alternans and heterogeneity, and atrial fibrillation in an intact porcine model.
Fuller H, Justo F, Nearing BD, Kahlig KM, Rajamani S, Belardinelli L, Verrier RL. Fuller H, et al. Among authors: kahlig km. Heart Rhythm. 2016 Aug;13(8):1679-86. doi: 10.1016/j.hrthm.2016.04.015. Epub 2016 Apr 21. Heart Rhythm. 2016. PMID: 27108587
Divergent sodium channel defects in familial hemiplegic migraine.
Kahlig KM, Rhodes TH, Pusch M, Freilinger T, Pereira-Monteiro JM, Ferrari MD, van den Maagdenberg AM, Dichgans M, George AL Jr. Kahlig KM, et al. Proc Natl Acad Sci U S A. 2008 Jul 15;105(28):9799-804. doi: 10.1073/pnas.0711717105. Epub 2008 Jul 9. Proc Natl Acad Sci U S A. 2008. PMID: 18621678 Free PMC article.
28 results