Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

Figures

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  Fig. 1. Biophysical effects of Cav3.2 mutations. a Schematic representation of the Cav3.2 channel showing the approximate location of the R1282W and A1765V mutations. b Representative Ba2+ current traces recorded from WT, R1282W and A1765V channels. c Average current densities (pA/pF) as a function of voltage for WT, R1282W and A1765V channels, showing a 2-fold increase in current densities of the R1282W mutant. d Steady-state inactivation curves for WT, R1282W and A1765V channels. e Representative western blot of surface biotinylation of WT and R1282W channels showing no difference in surface expression. Beads control represents non-biotinylated cells. Mock represents mock transfected cells. The graph shows quantified Cav3.2 integrated density normalized by Na+K+ATPase signal

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  Fig. 2. Biophysical analysis of variants R1282W and A1765V in cis. a Average current densities (pA/pF) as a function of voltage for WT and R1282W-A1765V channels, showing an increase in current density for R1282W-A1765V. Numbers in parentheses reflect numbesr of cells. b Mean half-voltage of activation values for R1282W-A1765V compared to WT channels. c Steady-state of inactivation curves for WT and R1282W-A1765V channels. The steady state activation curves extracted from the current-voltage relations in panel (a) are superimposed to highlight the window currents. d Mean half-voltage of inactivation values for R1282W-A1765V compared to WT channels. ****p < 0.0001, Student’s t-test