Table 1.
Clinical and Molecular Data from FCDII-Affected Individuals Harboring TSC1 and TSC2 Mutations
| Individual | Age at Surgery | Sex | Pathology | MRI Report | Protein | Nucleotide Change | Protein Change |
% Mutated Allele |
|
|---|---|---|---|---|---|---|---|---|---|
| Hybrid Capture | PCR Amplicon Sequencing | ||||||||
| FCD 64 | 6 years, 9 months | female | cortical dyslamination and dysmorphic neurons (consistent with FCDIIa) | cortical dysplasia involving the left frontoparietal lobe | TSC1 | c.610C>T | p.Arg204Cys | 1.75% | 1.0% |
| FCD 81 | 12 years | female | cortical dyslamination and dysmorphic neurons (consistent with FCDIIa) | no abnormal signal intensity | TSC1 | c.64C>T | p.Arg22Trp | 2.81% | 2.0% |
| FCD 94 | 10 years, 3 months | female | cortical dyslamination and dysmorphic neurons (consistent with FCDIIa) | subependymal heterotopia in the right peri-trigone area | TSC2 | c.4639G>A | p.Val1547Ile | 1.19% | 1.55% |
| FCD 98 | 14 years, 3 months | male | cortical dyslamination and dysmorphic neurons (consistent with FCDIIa) | no abnormal signal intensity | TSC1 | c.64C>T | p.Arg22Trp | 2.52% | 1.98% |
| FCD 123 | 12 years, 4 months | female | cortical dyslamination, dysmorphic neurons, and balloon cells (consistent with FCDIIb) | cortical dysplasia involving the right frontal lobe | TSC1 | c.64C>T | p.Arg22Trp | 2.21% | 1.37% |