This study reports new insights into Timothy syndrome (TS) using a novel Knock-in swine model. TS results from gain-of-function CACNA1C gene mutations that disrupt Cav1.2 channel's Voltage-Dependent Inactivation (VDI), causing prolonged calcium influx and calcium overload, which plays pivotal roles in arrhythmogenesis.
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Lora et al. (2024) studied this question.
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