Table 1.

Biophysical parameters of Na_V1.6 with FGF12 variants.

	Beta	WTA	WTB	S8P	G50S	G112S	duplication 1S	duplication 1L	duplication 2S	duplication 2L
Current density, pA/pF	-330·8 [-420·0 – -241·5]	-158·9 [-206·5 - -111·3] (p=0·002)	-224·9 [-292·0 - -157·7]	-155·9 [-196·0 - -115·9]	-338·3 [-447·3 - -229·2]	-373·1 [-474·6 - -271·6] (p=0·0004)	-150·7 [-185·6 - -115·7]	-158·2 [-203·2 - -113·2]	-214·4 [-306·7 - -122·1]	-120·8 [-158·5 - -83·0]
c	21	19	22	15	25	13	19	15	15	15
Activation
V0·5act, mV	-21·1 [-24·0 - -18·1]	-22·0 [-24·6 - -19·4]	-19·5 [-20·9 - -18·1]	-22·6 [-24·7 - -20·4]	-20·9 [-22·9 - -18·8]	-25·4 [-28·74- -22·1]	-18·9 [-21·3 - -16·5]	-19·1 [-21·1 - -17·1]	-18·9 [-20·8 - -16·9]	-19·9 [-22·0 - -17·9]
kact, mV	-6·24 [-6·82 - -5·65]	-6·16 [-6·82 - -5·50]	-6·45 [-6·79 - -6·11]	-5·79 [-6·36 - -5·22]	-5·78 [-6·42 - -5·14]	-4·56 [-5·61 - -3·50] (p=0·04)	-7·45 [-8·07 - -6·84] (p=0·01)	-7·44 [-8·04 - -6·84]	-6·86 [-7·36 - -6·36]	-6·89 [-7·65 - -6·14]
C	21	19	22	15	25	13	19	15	15	15
Fast Inactivation
V0·5inact, mV	-67·8 [-69·6 - -66·1]	-55·8 [-57·4 - -54·2] (p=0·0001)	-64·4 [-65·6 - -63·2] (p=0·002)	-56·6 [–57·4 - -55·8]	-59·8 [-61·0 - -58·7] (p=0·0001)	-51·1 [-52·7 - -49·4] (p=0·04)	-66·8 [-68·2 - -65·4] (p=0·02)	-68·1 [-69·1 - -67·1] (p=<0·0001)	-64·6 [-66·1 - -63·2]	-58·7 [-60·5 - -56·9]
kinact, mV	4·58 [4·31 – 4·85]	5·15 [4·87 – 5·43] (p=0·004)	4·40 [4·19 – 4·61]	5·27 [5·11 – 5·43]	4·78 [4·64 – 4·93]	5·47 [4·87 – 6·07]	5·44 [5·16 – 5·72] (p=<0·0001)	5·63 [5·19 – 6·06]	4·51 [4·25 – 4·78]	5·93 [5·70 – 6·17] (p=0·0003)
c	21	16	22	15	25	10	19	12	15	11
Slow Inactivation
V0·5inact, mV	-68·0 [-71·4 - -64·5]	-61·3 [-64·4 - -58·1] (p=0·007)	-59·9 [-62·8 - -57·0] (p=0·0005)	-63·7 [-66·1 - -61·4]	-58·6 [-61·0 - -56·3]	-60·2 [-62·8 - -57·5]	-60·7 [-63·1 - -58·2]	-67·2 [-68·5 - -66·0] (p=0·002)	-59·3 [-61·9 - -56·6]	-62·1 [-65·0 - -59·1]
kinact, mV	8·76 [8·08 – 9·44]	6·69 [5·65 – 7·74] (p=0·0002)	8·27 [7·82 – 8·73]	6·16 [5·50 – 6·82]	7·55 [7·14 – 7·95]	6·74 [5·42 – 8·06]	8·08 [7·26 – 8·91]	9·76 [8·10 – 11·41] (p=0·005)	8·76 [7·95 – 9·57]	6·91 [6·26 – 7·55]
c	15	11	15	10	16	10	10	10	10	10
Time course of fast inactivation
τ at -10 mV, ms	0·61 [0·54 – 0·69]	0·97 [0·90 – 1·04] (p=<0·0001)	0·60 [0·55 – 0·65]	1·30 [1·22 – 1·38] (p=0·001)	0·68 [0·64 – 0·73] (p=0·02)	1·1 [0·99 – 1·22]	0·59 [0·54 – 0·64]	0·65 [0·58 – 0·72] (p=0·002)	0·57 [0·53 – 0·60]	0·95 [0·86 – 1·05]
c	21	19	22	15	25	13	19	15	15	15
Time course of recovery at100 mV
τ1, ms	2·24 [1·71 – 2·78]	2·71 [1·89 – 3·54]	2·28 [1·53 – 3·03]	2·29 [1·89 – 2·68]	2·77 [2·31 – 3·23]	3·24 [2·63 – 3·85]	1·81 [1·33 – 2·30]	3·33 [2·63 – 4·03]	2·26 [1·74 – 2·79]	2·52 [1·83 – 3·21]
τ2, ms	8·12 [6·93 – 9·32]	31·88 [21·86 – 41·91] (p=<0·0001)	6·84 [5·15 – 8·54]	8·05 [7·10 – 9·00] (p=<0·0001)	7·64 [6·67 – 8·62]	71·95 [31·50 – 112·40]	6·88 [5·77 – 7·99]	18·09 [16·73 – 19·44]	5·94 [5·26 – 6·61]	23·56 [12·94 – 34·19]
A2	0·57 [0·56 – 0·58]	0·37 [0·33 – 0·41] (p=<0·0001)	0·56 [0·55 – 0·57]	0·41 [0·40 – 0·43]	0·57 [0·56 – 0·59]	0·53 [0·40 – 0·66]	0·56 [0·54 – 0·58]	0·40 [0·38 – 0·41]	0·55 [0·53 – 0·57]	0·35 [0·32 – 0·38]
c	10	10	11	11	12	11	12	12	12	12

Data are presented as mean [CI], k: slope factor, c: cell number. The recovery of fast inactivation was fitted to a biexponential function and the amplitude of the first exponential function (A1) was set to 0·3. statistically significant differences between the two WTs and the corresponding channel alone or the variants and the corresponding WTs are shown in brackets.