TSC2 and tuberous sclerosis: For example, some missense changes in TSC2 have been associated with TSC in patients diagnosed with definite TSC [Sancak et al., 2005; Hoogeveen‐Westerveld et al., 2011], as well as cases in which symptoms are less severe and TSC is more often likely to be familial [Khare et al., 2001; O'Connor et al., 2003; Mayer et al., 2004; Jansen et al., 2006; Wentink et al., 2012].