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Fig. 1 | Molecular Brain

Fig. 1

From: De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

Fig. 1

Electrophysiological properties of Nav1.6 and Cav3.2 channel variants associated with developmental and epileptic encephalopathy. a Family pedigree chart. Filled and open symbols indicate affected and unaffected individuals, respectively. b Location of the Nav1.6 G1625_I1627 duplication (red circle) and Cav3.2 G318S missense variants (blue circle) within the secondary membrane topology of the channels. c 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) in combination with Navb2. d Corresponding mean current–voltage (I/V) relationship. e Corresponding mean maximal macroscopic conductance (Gmax) values obtained from the fit of the I/V curves with the modified Boltzmann Eq. (1). f Corresponding mean normalized voltage-dependence of activation. The voltage-dependence of activation for Nav1.6wt in the absence of Navb2 is shown for comparison (dotted line). Inset shows corresponding mean half-activation potential values obtained from the fit of the activation curve with the modified Boltzmann Eq. (2). g 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). h 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). i-n Legend same as in (c-h) but for cells expressing wild type Cav3.2 (Cav3.2wt, black) and Cav3.2 G318S (Cav3.2G>S, blue) channel variants

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