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 ResearchMeSH KeywordsAutistic DisorderCalcium Channels, L-TypeChild, PreschoolFemaleHumansInfantLong QT SyndromeMaleMembrane PotentialsMutationSyndactylyConceptsSudden 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 cariesOverview of Mouse Models of Autism Spectrum Disorders
Bey AL, Jiang Y. Overview of Mouse Models of Autism Spectrum Disorders. Current Protocols In Pharmacology 2014, 66: 5.66.1-5.66.26. PMID: 25181011, PMCID: PMC4186887, DOI: 10.1002/0471141755.ph0566s66.Peer-Reviewed Original Research