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. 2022 Mar 30;15:795840. doi: 10.3389/fnmol.2022.795840

TABLE 1.

Clinical features of the cases with AFF2 mutations.

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.