Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca2+ channelopathies.

However, F747S induced pronounced and highly significant shifts of the voltage dependence of activation (by ~28 mV) and steady-state inactivation (by ~17–23 mV) to more negative voltages, independent of the co-expressed β-subunit isoform ( Fig. 2B and E ; Table 1 ).

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