2017
Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT
Ziki M, Seidelmann SB, Smith E, Atteya G, Jiang Y, Fernandes RG, Marieb MA, Akar JG, Mani A. Deleterious protein‐altering mutations in the SCN10A voltage‐gated sodium channel gene are associated with prolonged QT. Clinical Genetics 2017, 93: 741-751. PMID: 28407228, PMCID: PMC5640462, DOI: 10.1111/cge.13036.Peer-Reviewed Original ResearchConceptsLong QT syndromeSCN10A mutationsWhole-exome sequencingVoltage-gated sodium channel geneCongenital long QT syndromeHistory of palpitationsQT prolonging medicationsLife-threatening complicationsIdiopathic long QT syndromeProtein-altering mutationsSodium channel geneConfirmatory Sanger sequencingMutation burden analysisGenetic programAtrial fibrillationIdentifiable causeProlonged QTChannel genesMutation carriersArrhythmia genesQT syndromeGenesLQTS genesFrameshift mutationGenetic cause
2015
The Genetic Challenges and Opportunities in Advanced Heart Failure
Hannah-Shmouni F, Seidelmann SB, Sirrs S, Mani A, Jacoby D. The Genetic Challenges and Opportunities in Advanced Heart Failure. Canadian Journal Of Cardiology 2015, 31: 1338-1350. PMID: 26518444, PMCID: PMC5423787, DOI: 10.1016/j.cjca.2015.07.735.Books