Fig. 5.

Distribution of expansion lengths and genotype–phenotype correlations. a Box plots showing the distribution of the size of the overall expansion (in black), as well as the 5ʹ-TTTTA (yellow, Yp–Yn; see Methods for details) and TTTCA (red, R) parts in blood from the nine carrier individuals. Some alleles showed an unstained part between the red and the green signals, which is referred to as 3ʹ-TTTTA (W, in orange). Box plots elements are defined as follows: center line: median; box limits: upper and lower quartiles; whiskers: 1.5× interquartile range; points: outliers. b Box plots showing the distribution of the size of the overall expansion (in black) and each parts: 5ʹ-TTTTA appears in yellow (Yp–Yn; see Methods for details), TTTCA in red (R) in fibroblasts from four affected individuals of Family 1. c Correlations between the age at seizure onset and the mean size (in kb) of the overall expansion (left), the TTTCA (middle left), the 5ʹ-TTTTA (middle right), or the overall (5ʹ + 3ʹ) TTTTA repeats region (right). Individuals with larger TTTCA repeat region have an earlier age at seizure onset. On the contrary, neither the size of 5ʹ-TTTTA or 5ʹ + 3ʹ-TTTTA repeats correlate with the age at epilepsy onset. Individuals included in the graph are 1-IV-6, 1-IV-8, 1-IV-11, 2-IV-9, 2-IV-18, 2-V-9, and 2-V-22. Individuals without epilepsy also have the smallest TTTCA stretches although they are not included (see Table 1). R² is the square value of the Pearson coefficient; 95% confidence intervals appear in gray; corresponding R values and 95% confidence intervals are summarized in Supplementary Table 2. d Correlations between the age at tremor onset and the mean size (in kb) of the expansion and each part, showing no correlation with any of them. Individuals included in the graph are 1-IV-6, 1-IV-8, 1-IV-9, 1-IV-11, 2-IV-9, 2-V-20, and 2-V-22