Fig. 1
From: Splice-variant specific effects of a CACNA1H mutation associated with writer’s cramp
Electrophysiological recordings from tsa-201 cells expressing wild-type and R481C mutant channels lacking exon 26 (Cav3.2 (-26)). a Schematic representation of the Cav3.2 channel α1 subunit showing the approximate location of the R481C mutation (I-II linker) and exon 26 (III-IV linker). b Representative Ba2+ current traces recorded from WT and R481C channels. c Average current densities (pA/pF) as a function of voltage showing an approximate 30 % increase in current densities of mutant channels compared to WT. d Bar graph representing the corresponding maximum conductance Gmax. Values are represented as mean ± SEM. The asterisk denotes statistical significance relative to WT (*p = 0.035, Student’s t-test). e Steady-state inactivation curves for WT and R481C channels. f Mean half-inactivation potentials obtained from fits with the Boltzmann equation of individual steady-state inactivation curves. g Time course of recovery from inactivation for WT and R481C channels. h Time constant of recovery from inactivation obtained by individual fits of the recovery from inactivation data