Figure 2.

Fluctuating abnormalities of calcium metabolic profile in patients with GNAQ/GNA11 mosaicism and association with seizures and status epilepticus. (a) Graphical representation of abnormal results in calcium profiling investigations in the cohort of patients at different time points, demonstrating intra and interpatient variability typical in mosaic disease. Where no coloured marker is shown the result was normal. (b) Significant correlation between age and serum calcium corrected to albumin from whole patient cohort. Red and blue dots correspond to serum calcium measurements below or above normal range, respectively, black dots are normal measurements. Linear regression analysis showed a statistically significant negative correlation (P < .001). (c) Correlation between occurrence of seizures and serum ionized calcium corrected to pH from the patients’ cohort. The scatter plot shows the mean of the two groups, and red dots correspond to ionized calcium measurements below normal range. Linear regression analysis showed a statistically significant correlation (P = .013), independent of the effect of age. (d) Correlation between status epilepticus and serum ionized calcium corrected to pH in the patients’ cohort. The scatter plot shows the mean of the two groups, and red dots correspond to ionized calcium measurements below normal range. Linear regression analysis showed statistically significant correlation (P = .017), independent of the effect of age.