Table 1.
The clinical features and genetic testing results of 79 families with benign familial epilepsies with onset in the first year of life
| Family ID | Affected members | Age range at seizure oneset | Diagnosis | Gene | Transcript | Mutation | Reported/Novel |
|---|---|---|---|---|---|---|---|
| 1 | 2 | 1–4 d | BFNE | KCNQ2 | NM_172107.2 | c.1048A>C[p.Asn350His] | Novel |
| 2 | 3 | 2–3 d | BFNE | KCNQ2 | NM_172107.2 | c.242T>C[p.Leu81Pro] | Novel |
| 3 | 3 | 3 d | BFNE | KCNQ2 | NM_172107.2 | c.2506G>T[p.Glu836*] | Novel |
| 4 | 2 | 1–2 d | BFNE | ND | — | — | — |
| 5 | 3 | 25 d–2.5 m | BFNIE | KCNQ2 | NM_172107.2 | c.958G>A[p.Val320Ile] | Novel |
| 6 | 8 | 2 d–6 m | BFNIE | KCNQ2 | NM_172107.2 | c.998G>A[p.Arg333Gln] | Reported |
| 7 | 2 | 5 d–3.5 m | BFNIE | KCNQ2 and CHRNA4 | NM_172107.2 | Deletion | Reported |
| NM_000744.6 | |||||||
| 8 | 2 | 6 d–2 m | BFNIE | SCN2A | NM_001040142.1 | c.2674G>A[p.Val892Ile] | Reported |
| 9 | 6 | 3 d–3 m | BFNIE | SCN2A | NM_001040142.1 | c.2872A>G[p.Met958Val] | Novel |
| 10 | 6 | 2.5–3 m | BFNIE | SCN2A | NM_001040142.1 | c.2627A>G[p.Asn876Ser] | Reported |
| 11 | 2 | 2–2.5 m | BFNIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 12 | 2 | 1–3.5 m | BFIE | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 13 | 4 | 3–6 m | BFIE | KCNQ2 | NM_172107.2 | c.775G>A[p.Asp259Asn] | Reported |
| 14 | 19 | 4.5–12 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 15 | 3 | 4–5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 16 | 3 | 2–6 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 17 | 3 | 3–6 m | BFIE | PRRT2 | NM_145239.2 | c.904dupG[p.Asp302Glyfs*39] | Reported |
| 18 | 5 | 4.5–6 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 19 | 3 | 3–12 m | BFIE | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 20 | 3 | 3–12 m | BFIE | PRRT2 | NM_145239.2 | c.514_517delTCTG[p.Ser172Argfs*3] | Reported |
| 21 | 2 | 4.5–6 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 22 | 2 | 6–7 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 23 | 10 | 4–6 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 24 | 2 | 3.5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 25 | 2 | 4–4.5 m | BFIE | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 26 | 8 | 2–12 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 27 | 3 | 4–4.5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 28 | 3 | 5–8 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 29 | 2 | 3.5–4.5 m | BFIE | PRRT2 | NM_145239.2 | c.323_324delCA[p.Thr108Serfs*25] | Reported |
| 30 | 3 | 6–6.5 m | BFIE | PRRT2 | NM_145239.2 | Deletion | Reported |
| 31 | 2 | 4 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 32 | 2 | 3.5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 33 | 2 | 5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 34 | 2 | 4–6 m | BFIE | PRRT2 | NM_145239.2 | c.629dupC[p.Ala211Serfs*14] | Reported |
| 35 | 2 | 5–6 m | BFIE | PRRT2 | NM_145239.2 | C.679C>T[p.Arg227*] | Novel |
| 36 | 2 | 5 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 37 | 2 | 11–13 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 38 | 2 | 7–8 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 39 | 4 | 6–8 m | BFIE | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 40 | 2 | 4–4.5 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 41 | 3 | 4–5.5 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 42 | 2 | 7–12 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 43 | 2 | 4 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 44 | 4 | 5 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 45 | 4 | 4.5–6 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 46 | 3 | 3–4 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 47 | 2 | 8 m–3 y | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 48 | 3 | 6–12 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 49 | 2 | 5–6 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.560dupT[p.Gln188Alafs*4] | Novel |
| 50 | 8 | 1–3.5 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 51 | 2 | 2.5–6 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649dupC[p.Arg217Profs*8] | Reported |
| 52 | 2 | 5–8 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.649delC[p.Arg217Glufs*12] | Reported |
| 53 | 4 | 3–4 m | BFIE/ICCA | PRRT2 | NM_145239.2 | c.1023A>T[p.*341Cys] | Reported |
| 54 | 3 | 3.5–4 m | BFIE | SCN2A | NM_001040142.1 | c.668G>A[p.Arg223Gln] | Reported |
| 55 | 11 | 3–5.5 m | BFIE | SCN2A | NM_001040142.1 | c.752T>C[p.Val251Ala] | Novel |
| 56 | 2 | 3–3.5 m | BFIE | SCN2A | NM_001040142.1 | c.1307T>C[p.Leu436Ser] | Novel |
| 57 | 2 | 3 –3.5 m | BFIE | SCN2A | NM_001040142.1 | c.4835C>G[p.Ala1612Gly] | Novel |
| 58 | 3 | 14 m | BFIE | SCN2A | NM_001040142.1 | c.1737C>G[p.Ser579Arg] | Novel |
| 59 | 2 | 7–12 m | BFIE | KCNQ2 | NM_172107.2 | c.237T>G[p.Asn79Lys] | Novel |
| 60 | 2 | 9 m | BFIE | KCNQ2 | NM_172107.2 | c.1510C>T[p.Arg504Trp] | Novel |
| 61 | 2 | 8.5–9 m | BFIE | GABRA6 | NM_000811.2 | c.523G>T[p.Gly175Trp] | Novel |
| 62 | 3 | 7 m | BFIE | ND | — | — | — |
| 63 | 2 | 6 m | BFIE | ND | — | — | — |
| 64 | 4 | 11–12 m | BFIE | ND | — | — | — |
| 65 | 2 | 10 m | BFIE | ND | — | — | — |
| 66 | 2 | 4 m | BFIE | ND | — | — | — |
| 67 | 2 | 3–11 m | BFIE | ND | — | — | — |
| 68 | 2 | 7 –8 m | BFIE | ND | — | — | — |
| 69 | 2 | 8–12 m | BFIE | ND | — | — | — |
| 70 | 2 | 6–8 m | BFIE | ND | — | — | — |
| 71 | 3 | 3–12 m | BFIE | ND | — | — | — |
| 72 | 2 | 9–12 m | BFIE | ND | — | — | — |
| 73 | 2 | 6–7 m | BFIE | ND | — | — | — |
| 74 | 5 | 8 m | BFIE | ND | — | — | — |
| 75 | 2 | 9.5–12 m | BFIE | ND | — | — | — |
| 76 | 3 | 7–8 m | BFIE | ND | — | — | — |
| 77 | 2 | 6–7 m | BFIE | ND | — | — | — |
| 78 | 2 | 4 m | BFIE | ND | — | — | — |
| 79 | 2 | 7.5 m | BFIE/ICCA | ND | — | — | — |
d day, m month, y year, ND Not detected