Figure 2.

Overview of the TSC1 deletions identified during this study and described previously. The upper part of the figure represents the genomic region extending from exon 1 to exon 23 of TSC1 (not drawn on scale). The closed box represents the promoter region and the open boxes represent TSC1 exons. If the breakpoints of the deletion have been determined, this is given by the HGVS nomenclature (reference sequence NM_000368 (17 December 2004; build 36, NCBI)); ND: breakpoint is not determined; 2.3 kb: in the article of Kozlowski et al¹⁸ only the length of the deletion is given. On the right side of each deletion the identification number of the patient is given, followed by the indication S (sporadic), F (familial), ND (not determined) and, if previously published, the references: ^*Kozlowski et al,^{18 **}Longa et al,^{19 ***}Nellist et al.²⁰