TABLE 1.
Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | |
AFF2 mutations (NM_002025.4) |
c.230A > T/p.N77I | c.391C > T/p.H131Y | c.1540C > T/p.R514C | c.2009G > A/p.R670H | c.2074C > G/p.P692A |
Diagnosis | PE | PE | PE | PE | PE |
Gender | Male | Male | Male | Male | Male |
Present age | 8 yr | 9 yr | 5 yr | 10 yr | 27 yr |
FS onset age | 14 mo | 2 yr | 18 mo | 10 mo | — |
aFS onset age | 7 yrs | 9 yrs | 5 yrs | 7 yrs | 8 yrs |
Intermission from FS to EP | 6 yrs | 7 yrs | 4 yrs | 7 yrs | — |
Seizure type | FS, CPS | FS, CPS | FS, CPS | FS, CPS, sGTCS | CPS, sGTCS |
Seizure frequency | FS once, CPS 2 times/mo | FS once, CPS 3 times/mo | FS 4 times, CPS 4–5 times/yr | Prolonged FS 2 times/yr, CPS/sGTCS 3–4 times/yr | CPS 5–6 times/mo, sGTCS 1–2 times/yr |
Seizure timing | Nocturnal | Diurnal | Diurnal | Diurnal and nocturnal | Diurnal and nocturnal |
Family history of seizure | None | None | None | None | None |
Ictal EEG | Generalized spike and spike-slow wave originated from the left mid-central with a partial seizure | NA | Generalized slow wave originated from the left hemisphere with a partial seizure | NA | NA |
Interictal EEG | Bilateral spike and slow waves predominantly in the frontal and central areas | Bilateral spike and slow waves predominantly in the frontal and anterior-temporal areas | Spike and slow waves predominantly in the left hemisphere | Bilateral sharp waves predominantly in the occipital areas | Bilateral spike and slow waves predominantly in the frontal areas |
Brain MRI | Normal | Normal | Normal | Normal | Normal |
Intelligence | Normal | Normal | Normal | Normal | Normal |
Developmental delay | No | No | No | No | No |
Treatment | LTG | VPA, OXC | LTG | VPA, OXC | VPA, LTG |
Seizure outcome | Free for 1 yr | Free for 1 yr | Free for 1 yr | Free for 1 yr | Free for 5 yrs |
aFS, afebrile seizures; CPS, complex partial seizure; EEG, electroencephalogram; EP, epilepsy; FS, febrile seizures; LTG, lamotrigine; MRI, magnetic resonance imaging; mo, month; NA, not available; OXC, oxcarbazepine; PE, partial epilepsy; sGTCS, secondary generalized tonic-clonic seizure; VPA, valproate; yr, year.