However, if we exclude the single neonatal patient ET200, most of the cases showed neurological involvement (N = 21/21), including intellectual disability/developmental delay (N = 20/21), epilepsy (N = 21/21) and/or behavioral abnormalities (N = 8/21); meanwhile, only one case (familial, ET173; having a PV in TSC1) presented epilepsy without intellectual disability (Supplementary Table S1). Here, TSC1 is linked to Global developmental delay.