Additional file 1 of De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Additional file 1: Fig. S1. Electrophysiological properties of Nav1.6 variant expressed in the absence of Navb2. a Representative sodium current traces recorded from cells expressing wild-type Nav1.6 (Nav1.6wt, black traces) and Nav1.6 duplication variant (Nav1.6dup, red traces). b Corresponding mean current–voltage (I/V) relationship. c Corresponding mean maximal macroscopic conductance (Gmax) values obtained from the fit of the I/V curves with the modified Boltzmann Eq. (1). d Corresponding mean normalized voltage dependence of activation. Inset shows corresponding mean half-activation potential values obtained from the fit of the activation curve with the modified Boltzmann Eq. (2). e Mean normalized voltage-dependence of steady-state inactivation for Nav1.6wt and Nav1.6dup. Inset shows corresponding mean half-inactivation potential values obtained from the fit of the inactivation curves with the two-state Boltzmann function (3). f Mean normalized recovery from inactivation kinetics. Inset shows corresponding mean time constant t values of recovery from inactivation obtained by fitting recovery curves with a single-exponential function (4). Table S1. Electrophysiological properties of human Nav1.6 and Cav3.2 variants expressed in tsA-201 cells. *p < 0.05.