ID | Age | Onset | Diagnosis | Gene variant/Ref. | VAF | Family history | FU |
---|---|---|---|---|---|---|---|
1 | 33 | 0.5 | FCD IIa | DEPDC5 (SNV) [47] | Germline | None | IVA (48) |
2 | 20 | 4.5 | FCD IIa | DEPDC5 (SNV) [2] | Germline | None | IIA (24) |
3 | 42 | 5.5 | FCD IIa | DEPDC5 (CNN-LOH) [37] | Somatic (3.7%) | Father’s sister | IIB (24) |
4 | 12 | 2.8 | FCD IIa | DEPDC5 (SNV + LOH) [37] | Two-hit* | None | IIA (48) |
5 | 36 | 9 | FCD IIa | DEPDC5 (SNV) [37] | Germline | Brother son | IA (24) |
6 | 3 | 0.25 | FCD IIa | DEPDC5 (CNN-LOH) [37] | Somatic (4.3%) | None | IA (24) |
7 | 1.5 | 0.4 | FCD IIa | DEPDC5 (SNV)§ | Germline | Sister | IA (24) |
8 | 5 | 0.7 | FCD IIa | NPRL3 (SNV) [37] | Germline | None | IA (24) |
9 | 0.4 | 0 | FCD IIa | NPRL3 (SNV) [37] | Germline | None | IA (16) |
10 | 17 | 3.5 | FCD IIa | NPRL3 (SNV) [47] | Somatic (4.5%) | None | IA (24) |
11 | 0.5 | 0.1 | FCD Iib/HME | MTOR (SNV) [37] | Somatic (10.5%) | None | IA (24) |
12 | 40 | 17.5 | FCD IIa | MTOR (SNV) [37] | Somatic (5%) | None | IA (24) |
13 | 0.8 | 0.3 | FCD IIa/HME | MTOR (SNV) [37] | Somatic (3.4%) | None | IA (24) |
14 | 10 | 3 | FCD IIb | MTOR (SNV) [37] | Somatic (5.3%) | None | IA (24) |
15 | 19 | 9.5 | FCD IIb | MTOR (SNV) [37] | Somatic (3.5%) | None | IA (24) |
16 | 0.9 | 0.2 | FCD IIb | MTOR (SNV) [37] | Somatic (3.1%) | None | IA (24) |
17 | 0.6 | 0 | FCD IIb/PMG | MTOR (SNV) [37] | Somatic (4.3%) | None | IA (24) |