Statistical analysis

Graphical data visualization was accomplished in GraphPad Prism (Version 7) and SPSS (Version 23.0). Statistical analysis was performed in SPSS (IBM software). Non‐parametric independent Kruskal–Wallis and all‐pairwise comparisons were used to analyze differences within groups. Kendall‐tau b was undertaken for correlations. Categorical data was compared utilizing Chi‐square. Unsupervised hierarchical clustering was performed to determine subgroups (Ward's method, squared Euclidian distances). Not significant values are indicated by n.s., P < 0.05 was considered to be significant and was indicated by stars (*).

At the Medical University of Vienna (MUV) IHC/IF stainings, western blotting, data analysis and manuscript preparation were done. At the Academic Medical Centre (AMC, Amsterdam) sequencing, statistical counseling and project guidance were performed. Additional, AMC also provided material of five TSC patients and two controls.