Table 1 Detail clinical data of the six BBSOAS patients in our clinic
From: Effective treatment of NR2F1-related epilepsy with perampanel
ID | Age | Sex | NR2F1 variant | Variant (Protein) | Brain MRI | DD/ID/ASD/ADHD/ Behavioral abnormalities | Visual System Defect(s) /Visual Deficit/VEP | Early-onset epilepsy/ seizures | Oromotor dysfunction |
|---|---|---|---|---|---|---|---|---|---|
1 | 3 years and 10 months | Male | c.365G > T(NM_005654.4), de novo | p.Cys122Phe | Thin corpus callosum | Severe DD, ASD-like traits | P/SOD, alacrima, nystagmus and poor tracking, strabismus, poor tracking, VEP( +) | IES, GTS | NA |
2 | 3 years and 5 months | Male | c.383G > T(NM_005654.4), de novo | P.Cys128Tyr | DM | DD, ASD-like traits | P/SOD, VEP( +), alacrima, nystagmus and poor tracking | IES | Yes |
3 | 8 years and 8 months | Male | c.382 T > C(NM_005654.4), de novo | p.Cys128Arg | Normal | DD, ASD-like traits | Poor tracking, strabismus, VEP(NG) | IES, GTS, myoclonus | No |
4 | 1 year and 8 months | Male | c.449G > T(NM_005654.4), de novo | p.Gly150Val | Normal | DD | Normal OD/ON, nystagmus, VEP( +) | IES | Yes |
5 | 3 years and 5 month | Male | c.449G > T(NM_005654.4), de novo | p.Gly150Val | Thin corpus callosum | Developmental quotient 63, behavioral abnormalities | OA, strabismus, poor tracking, VEP(-) | IES, focal seizure | Yes |
6 | 2 years 3 months | Female | c.328_330del(NM_005654.4), de novo | p.Phe110Del | Wider outer fronto-temporal space,thin intracranial segment of optic nerve | DD, behavioral abnormalities | Optic nerve pallor, rod cell dysfunction, strabismus, poor tracking, VEP( +) | IES, AS, myoclonus | Yes |