Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

Table 3 Tail current parameters of mutation S652L

α₁-subunit	τ_fast (ms)	τ_slow (ms)	C (pA/pF)	A_fast (pA/pF)	A_slow (pA/pF)	Half width (ms)	Norm. tail area (pA*ms)	n
− 60 mV
WT_L	0.16 ± 0.01	0.91 ± 0.08	− 0.003 ± 0.001	− 0.79 ± 0.02	− 0.12 ± 0.02	0.31 ± 0.02	− 0.44 ± 0.02	14
S652L_L	0.20 ± 0.01*	0.81 ± 0.04	− 0.007 ± 0.001**	− 0.51 ± 0.02***	− 0.37 ± 0.03***	0.41 ± 0.02***	− 0.65 ± 0.03***	16
− 40 mV
WT_L	0.19 ± 0.02	1.12 ± 0.07	− 0.006 ± 0.001	− 0.65 ± 0.02	− 0.24 ± 0.01	0.37 ± 0.02	− 0.65 ± 0.04	14
S652L_L	0.39 ± 0.03***	1.95 ± 0.08***	− 0.047 ± 0.003***	− 0.29 ± 0.02***	− 0.54 ± 0.02***	0.92 ± 0.07***	− 1.87 ± 0.09***	16

Normalized tail currents were fitted to a bi-exponential decay (τ_fast, τ_slow: time constants of slow and fast component; A_fast, A_slow: amplitudes of slow and fast components; C: non-inactivating component). Statistics: Mann-Whitney U test, *p < 0.05, **p < 0.01, ***p < 0.001. All values are presented as mean ± SEM (> 3 independent transfections). n, number of recordings

ISSN: 2040-2392