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. 2018 Oct 18;103(5):666–678. doi: 10.1016/j.ajhg.2018.09.006

Table 2.

Main Electrophysiological Parameters of IIS6 and IIS4-S5 Variants Causing Gain-of-Function

Current Density
Steady-State Activation
Inactivation
(pA/pF) V1/2 (mV) kV (mV) r400 at +5 mV
IIS6 Variants in α1E-1+ β2d; 15 mM Ba2+

Wild-type −183.1 ± 17.7 (24) −9.7 ± 0.8 (24) 5.0 ± 1.1 (24) 0.27 ± 0.09 (24)
p.Phe698Ser −121.4 ± 17.1 (11) −20.1 ± 1.2 (11)∗∗∗ 5.1 ± 0.7 (11) 0.53 ± 0.05 (11)∗∗
p.Ile701Val −186.9 ± 27.8 (10) −20.5 ± 1.2 (10)∗∗∗ 4.3 ± 0.7 (10) 0.40 ± 0.04 (10)
p.Ala702Thr −184.5 ± 34.2 (9) −20.4 ± 1.4 (9)∗∗∗ 4.2 ± 0.3 (9) 0.45 ± 0.05 (9)∗∗

IIS4-S5 Linker Variant α1E-3+ β1b2δ; 2 mM Ca2+ τinact (ms) at +5 mV

Wild-type −47.8 ± 10.9 (13) −18.0 ± 1.6 (13) 4.4 ± 0.5 (13) 66.1 ± 8.9 (9)
p.Ile603Leu −192.3 ± 20.4 (16)∗∗∗∗ −29.4 ± 2.7 (10)∗∗ 3.1 ± 0.3 (10) 80.6 ± 8.7 (10)

IIS4-S5 Linker Variant α1E-3+ β1b2δ; 5 mM Ba2+ τinact (ms) at +5 mV

Wild-type −105.9 ± 18.3 (13) −18.8 ± 1.5 (10) 4.7 ± 0.2 (10) 58.6 ± 3.6 (7)
p.Ile603Leu −197.5 ± 35.2 (13) −31.9 ± 2.1 (10)∗∗∗∗ 3.7 ± 0.6 (10) 109.9 ± 13.9 (8)∗∗

V1/2 is the voltage of half-maximal activation, kV is a slope factor, r400 is the residual current in a 400-ms lasting pulse to 5 mV normalized to the peak current of the same trace, τinact is the exponential time constant of inactivation; numbers in brackets indicate the number of cells that were analyzed for this parameter, data are represented as mean ± SEM; p < 0.05; ∗∗p < 0.01; ∗∗∗p < 0.001; ∗∗∗∗p < 0.0001.