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Table 1 Biophysical properties of WT and mutant channels

From: The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

 

CaV2.1 (Δ47)

Y1384C (Δ47)

CaV2.1 (+ 47)

Y1384C (+ 47)

V1/2, act (mV)

− 14.37 ± 0.85

n = 39

− 21.04 ± 1.57***

n = 29

− 15.14 ± 1.40

n = 22

− 21.13 ± 1.39*

n = 14

k

− 3.68 ± 0.15

− 6.29 ± 0.51****

− 3.35 ± 0.23

− 6.18 ± 0.50****

V1/2, inac (mV)

− 39.85 ± 1.80

n = 10

− 47.54 ± 1.16*

n = 13

− 39.18 ± 2.07

n = 11

− 50.10 ± 2.36**

n = 10

k

7.56 ± 1.75

8.50 ± 2.14

7.17 ± 1.40

8.75 ± 1.67

  1. One-way analysis of variance (ANOVA) and Tukey’s multiple comparation test, with a single pooled variance test was performed for multiple comparisons. Significance was established as follows: *p < 0.05, **p < 0.01, ***p < 0.001, ****p < 0.0001