Table 4 NR2F1 variants in the six patients with BBSOAS in our clinic
From: Effective treatment of NR2F1-related epilepsy with perampanel
Patient | Age at last follow-up | Sex | NR2F1 mutation | Heter/homo | Variant (Protein) | NR2F1 domain | dbSNP | Allele frequency ExAC/gnomAD (all) | In silico tools (PolyPhen-2, SIFT, MutationTaster, PROVEAN) | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 3 years and 10 months | Male | c.365G > T, de novo (chrM-14502 T > C, de novo) | heter | p.Cys122Phe | DBD | 0/0 | 0/0 | Damaging | - |
2 | 3 years and 5 months | Male | c.383G > T, de novo | heter | P.Cys128Tyr | DBD | 0/0 | 0/0 | Damaging | [3] |
3 | 8 years 8 months | Male | c.382 T > C, de novo | heter | p.Cys128Arg | DBD | 0/0 | 0/0 | Damaging | [3] |
4 | 1 year 8 months | Male | c.449G > T, de novo | heter | p.Gly150Val | DBD | 0/0 | 0/0 | Damaging | - |
5 | 3 years and 5 months | Male | c.449G > T, de novo | heter | p.Gly150Val | DBD | 0/0 | 0/0 | Damaging | - |
6 | 2 years and 3 months | Female | c.328_330 del, de novo | heter | p.Phe110del | DBD | 0/0 | 0/0 | Damaging | [10] |