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Fig. 4 | Molecular Autism

Fig. 4

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

Fig. 4

Mutation S652L increases Ca2+-influx during sustained upstate potentials. a, b Normalized representative ICa of WTL vs S652LL (A) and WTS vs S652LS (B) multiplied with the corresponding conductance at a physiologically relevant potential of -20 mV, which corresponds to ~ − 35-38 mV at physiological Ca2+-concentrations (WTL, 0.1253; S652LL, 0.4330; WTS, 0.2647; S652LS, 0.6325; Fig. 1) and plotted as a function of time. Insets show the first 400 ms. Data are presented as mean ± SEM for the n-numbers indicated. Statistics: unpaired Student’s t test of ICa at peak ([mean ± SEM; pA*pS]: WTL, − 0.12 ± 0.005, n = 16; S652LL, − 0.42 ± 0.005***, n = 20; WTS, − 0.24 ± 0.009, n = 15; S652LS, − 0.58 ± 0.011***, n = 15) and ICa after 300 ms ([mean ± SEM; pA*pS]: WTL, − 0.08 ± 0.006, n = 16; S652LL, − 0.13 ± 0.013**, n = 20; WTS, − 0.15 ± 0.008, n = 15; S652LS, − 0.19 ± 0.021, n = 15; **p < 0.01, ***p < 0.001). Data were collected from > 3 independent transfections

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