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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
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