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Table 2 TSC signs observed within 16 weeks of age in patients with ‘early TSC diagnosis’ (n = 82)

From: Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

TSC signs Major criteria Minor criteria Pathogenic
CTs SEN CD SEGA HMs MRH MRC RAP TSC1/2
mutation
No. of patients 82 71 66 5 35 5 8 2 3
Per cent % 100% 86.6% 80.5% 6.1% 42.7% 6.1% 9.8% 2.4% 3.7%
  1. CTs cardiac tumors, SEN subependymal nodules, CD cortical dysplasia: includes cortical tubers and white matter migration lines, SEGA subependymal giant cell astrocytoma, HMs hypomelanotic macules, MRH multiple retinal hamartomas, MRC multiple renal cysts, RAP retinal achromic patch