IndraLab

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"Variants located in CACNA1C, CACNA1D, CACNA1F and CACNB2 cause gain of function by preventing voltage-dependent inactivation of Ca 1.2, Ca 1.3, Ca 1.4, and Ca β2, leading to excessive influx of Ca ."

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"ATP1A1 (Na + / K + ATPase alpha-subunit) mutations result in cellular depolarization and subsequent calcium influx, whereas ATP2B3 (Ca 2+ ATPase) and CACNA1D (Ca v 1.3) mutations result in impaired intracellular calcium clearance and stimulation of the voltage gated calcium channels at lower depolarization levels, respectively."

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"CaV1.3 phosphorylation by IGF-1 at S1486 residue induces a left-shifted current–voltage that regulates CREB."