Table 2.
Epilepsy and outcome in 30 subjects with FOXG1-related disorders.
| Subject | FOXG1 abnormality | Age EPI dx | Hosp. in last 12 months | Current number of AEDs | Type of seizures | Walks unassisted | Verbal language | Functional hand use | Makes social contact |
|---|---|---|---|---|---|---|---|---|---|
| DB12-001 | c.651C>G/p.Tyr217X | 1.5 y | 0 | 2 | Tonic seizures, myoclonic seizures | − | − | − | − |
| DB12-002 | p.Gln86X | 15 m | 1 | 3 | Generalized tonic-clonic seizures | − | − | − | +/− |
| DB12-003 | 6.4 Mb Del 26908842-33280997 | N/A* | N/A* | N/A* | None | N/A** | N/A** | N/A** | N/A** |
| DB12-004 | 1.1 Mb Del 27622465-28725069 | 3 y 2 m | 0 | 4 | Complex partial seizures | − | − | − | − |
| DB12-005 | c.430G>T/p.Glu144X | 1 y 6 m | 1 | 3 | Generalized seizures | − | − | − | + |
| DB12-006 | c.460dupG/p.Glu154GlyfsX301 | 19 m | 1 | 3 | Generalized seizures, tonic seizures | − | − | − | + |
| DB12-008 | 0.25 Mb Del 28116191-28370178 | 9 m | 3 | 3 | Tonic seizures | N/A** | N/A** | N/A** | N/A** |
| DB12-009 | c.460dupG/p.Glu154GlyfsX301 | 2 y | 0 | 2 | Generalized tonic-clonic seizures | − | − | − | − |
| DB12-015 | c.133_469del377insACCCACCGCCCC | 1 y | 0 | 0 | Myoclonic seizures | − | − | − | − |
| DB12-016 | c.577G>A/p.Ala193Thr | 8 m | 0 | 3 | Tonic seizures | − | − | + | + |
| DB12-017a1 | c.515_577del63/p.Gly172_Met192del | 18 m | 0 | 1 | Complex partial seizures | − | − | − | + |
| DB12-017a2 | c.515_577del63/p.Gly172_Met192del | N/A* | N/A* | N/A* | None | − | − | − | +/− |
| DB13-006 | c.506delG/p.Gly169AlafsX23 | 11 m | 5 | 3 | Myoclonic seizures, tonic seizures, drop seizures | − | − | − | +/− |
| DB13-007 | c.586C>T/p.Gln196X | 1 y | 0 | 1 | Myoclonic seizures | − | − | − | +/− |
| DB13-012 | c.755G>T/p.Gly252Val | N/A* | N/A* | N/A* | None | − | − | − | +/− |
| DB13-019 | 4.1 Mb Del 26658715-30780974 | 8 m | 0 | 2 | Tonic seizures at age 4 y | − | − | − | + |
| DB13-029a1 | c.460dupG/p.Glu154GlyfsX301 | 2 y | 0 | 0 | Generalized tonic-clonic, status epilepticus prior to age 12 y | − | − | + | +/− |
| DB13-029a2 | c.460dupG/p.Glu154GlyfsX301 | 2 y | 0 | 3 | Generalized tonic-clonic prior to age 11 y | − | − | + | +/− |
| DB13-028 | c.735delC/p.Tyr246ThrfsX80 | 13 m | 0 | 1 | Tonic seizures and generalized tonic-clonic seizures | − | − | − | +/− |
| DB13-033 | c.762G>C/p.Tyr254X | 1 yr | 3 | 2 | Complex partial seizures | N/A** | N/A** | N/A** | N/A** |
| DB13-041 | c.222_223dupGC/p.Pro75ArgfsX118 | 3 y 6 m | 0 | 1 | Tonic seizures | − | − | − | +/− |
| DB13-052a1 | c.460dupG/p.Glu154GlyfsX301 | 4 y | 0 | 1 | Complex partial seizures | − | +/− | − | +/− |
| DB13-052a2 | c.460dupG/p.Glu154GlyfsX301 | 4 y | 0 | 1 | Complex partial seizures | − | +/− | − | +/− |
| IS09-009 | 3.3 Mb Dup 26908812-30254928 | 6 m | 0 | 0 | Infantile spasms | + | − | + | +/− |
| IS10-028 | 3.0 Mb Dup 27165797-30192375 | 10 m | 0 | 0 | Infantile spasms | + | + | + | + |
| DB12-013 | 4.1 Mb Dup 26169335-30237575 | 6 m | 0 | 0 | Infantile spasms | N/A** | N/A** | N/A** | N/A** |
| DB12-018 | 15.6 Mb Dup 19528022-35193884 | 9 m | 0 | 0 | Infantile spasms | N/A** | N/A** | N/A** | N/A** |
| DB13-005 | 33.9 Mb Dup 21927637-55833232 | 8 m | 2 | 0 | Infantile spasms | N/A** | N/A** | N/A** | N/A** |
| DB13-016 | 13.3 Mb Dup 20555119-33885364 | N/A* | N/A* | N/A* | Febrile seizures x 3 | +/− | − | + | − |
| IS14-001 | 4.4 Mb Dup 26558014-30980441 | 6 m | 1 | 1 | Infantile spasms Myoclonic seizures |
N/A** | N/A** | N/A** | N/A** |
N/A* = no diagnosis of epilepsy; N/A** = subject <3 years of age; EPI = epilepsy; AEDs = anti-epileptic drugs