Table 1.
Characteristics of PRRT2 mutations in epileptic patients with febrile seizures. M, male; F, female; d, days; w, weeks; m, months; y, years; FS+, febrile seizures plus; GEFS+, generalized epilepsy with febrile seizures plus; DS, Dravet syndrome; N, normal; ND, not done; AB, abnormal; CBZ, carbamazepine; PHT, phenytoin; OXC, oxcarbazepine; VPA, sodium valproate; LEV, levetiracetam; TPM, topiramate; PB, phenobarbitone. All patients had heterozygous mutations.
| Case Number | Gender | Age (year) | Age at Onset | Subtypes | Familial/Sporadic | GGE/MRI/CT | Duration of Seizure | Frequency of Seizure | Current Medication | Nucleotide Changes | Amino Acid Changes |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 89 | M | 7 | 2 y | FS+ | Sporadic | N/N/N | <20 s | 1–2 m | CBZ | c.412C>G | p.Pro138Ala |
| 123 | F | 18 | 13 y | FS+ | Sporadic | N/N/ND | 5–10 s | 1–2 m | VPA | c.623C>A | p.Ser208Tyr |
| 174 | M | 16 | 2 y | FS+ | Sporadic | AB/N/N | <30 s | 4–5 m | CBZ, PB | c.412C>G | p.Pro138Ala |
| 114 | M | 6 | 2 y | FS+ | Sporadic | N/ND/N | 1 min | 10–15 y | CBZ | c.412C>G | p.Pro138Ala |
| 192 | M | 13 | 1 y | FS+ | Sporadic | N/AB/N | 10 s | 2–3 y | VPA, LTG | c.439G>C | p.Asp147His |
| 311 | M | 6 | 4 y | FS+ | Sporadic | AB/N/N | 3–5 min | 3–5 m | LEV | c.412C>G | p.Pro138Ala |
| 313 | M | 6 | 3 y | FS+ | Sporadic | N/N/N | 10 s | 2–4 m | VPA, PHT | c.412C>G | p.Pro138Ala |
| SN540 | M | 18 | 5 m | DS | Familial | AB/ND/ND | 1–2 min | 1–2 m | CBZ, OXC | c.640_641insC | p.R217Pfs*8 |
| 363 | M | 33 | 9 y | FS+ | Sporadic | AB/N/N | 3–10 s | 1 m | CBZ,PHT | c.640_641insC | p.R217Pfs*8 |
| c.439G>C | p.Asp147His | ||||||||||
| 737 | M | 7 | 4 y | FS+ | Sporadic | N/ND/N | 2–5 s | 2 m | VPA | c.412C>G | p.Pro138Ala |
| 853 | M | 17 | 8 y | FS+ | Sporadic | N/ND/ND | 2–5 min | 4–8 y | CBZ | c.412C>G | p.Pro138Ala |
| HH69 | M | 15 | 3 y | FS+ | Sporadic | N/N/AB | 1 min | 1–2 m | VPA | c.439G>C | p.Asp147His |
| SN252 | M | 24 | 4 y | FS+ | Sporadic | AB/N/N | 2 min | 2–3 y | CBZ, VPA | c.439G>C | p.Asp147His |
| SN488 | F | 20 | 13 y | FS+ | Sporadic | AB/N/N | 2–3 min | 2–3 m | VPA, TPM | c.412C>G | p.Pro138Ala |
| SN275 | F | 12 | 3 y | FS+ | Sporadic | AB/N/N | 2–4 min | 1–2 y | CBZ | c.649delC | p.Arg217Glufs*12 |
| 812 | M | 32 | 10 y | GEFS+ | Familial | N/ND/ND | 5–6 min | 4–6 d | CBZ | c.412C>G | p.Pro138Ala |
| 1232 | M | 15 | 2 y | GEFS+ | Familial | N/ND/N | 1–3 min | 2 w | VPA | c.412C>G | p.Pro138Ala |
| SN854 | M | 36 | 8 y | GEFS+ | Familial | N/ND/ND | 1–2 min | 2 d | CBZ, PB | c.640_641insC | p.R217Pfs*8 |
| 576 | F | 5 | 5 m | DS | Sporadic | N/ND/N | 1 min | 10 w | CBZ, VPA | c.439G>C | p.Asp147His |
| 1186 | F | 10 | 8 m | DS | Sporadic | N/N/ND | 1–3 min | 2–3 w | CBZ, VPA | c.412C>G | p.Pro138Ala |
| 872 | F | 3 | 9 m | DS | Sporadic | AB/N/N | 10 min | 1 w | CBZ, LEV | c.412C>G | p.Pro138Ala |
| SN676 | M | 32 | 5 m | DS | Sporadic | N/ND/ND | 2–3 min | 2–3 d | OXC, VPA | c.649delC | p.Arg217Glufs*12 |
| SN740 | F | 25 | 40 d | DS | Sporadic | AB/N/N | 1–2 min | 3 m | CBZ, VPA | c.412C>G | p.Pro138Ala |
| SN540 | M | 18 | 5 m | DS | Familial | AB/N/N | 1–2 min | 1–2 m | CBZ, OXC | c.640_641insC | p.R217Pfs*8 |
| 428 | M | 12 | 11 m | DS | Sporadic | AB/ND/N | 1 min | 1–2 w | LEV, VPA | c.412C>G | p.Pro138Ala |