2014
A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W, Pfeiffer R, Sutphin BS, Tester DJ, Barajas-Martinez H, Ackerman MJ, Antzelevitch C, Kanter R, Pitt GS. A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis. PLOS ONE 2014, 9: e106982. PMID: 25184293, PMCID: PMC4153713, DOI: 10.1371/journal.pone.0106982.Peer-Reviewed Original ResearchConceptsSudden unexplained infant deathVoltage-dependent inactivationLong QT syndromeWindow currentTimothy syndromeCav1.2 L-type Ca2Multiple dental cariesLower extremity weaknessGain of functionCertain clinical settingsEpisodes of rhabdomyolysisUnexplained infant deathL-type Ca2Channel window currentAge 5 yearsYears of ageAppreciation of mechanismsMonths of ageCandidate gene sequencingCardiac ion channelsRecurrent VTExtremity weaknessSpastic diplegiaExtracardiac featuresDental caries
2013
A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates
Hennessey J, Jiang Y, Miller J, Stadt H, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt G. A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates. Heart Rhythm 2013, 10: 1745. DOI: 10.1016/j.hrthm.2013.09.026.Peer-Reviewed Original ResearchLong QT syndromeVoltage-dependent inactivationCACNA1C mutationsCav1.2 L-type Ca2Congenital long QT syndromeSkeletal muscleL-type Ca2T phenotypeExtracardiac manifestationsElectrophysiologic studyVentricular tachyarrhythmiasCACNA1C expressionDental abnormalitiesLQTS patientsReporter miceQT syndromeCav1.2 expressionCraniofacial dysmorphiaCanonical mutationsSkeletal myopathyPatientsSyndrome phenotypeSyndromeChromosomal translocationsRecent reports