Table 3.
Clinical characteristics of patients harboring pathogenic PRRT2 mutations.
| Patient, Gender | Pheno-type | Variant | Family history† | Age of onset | Seizure Type | Ictal EEG | Age at treatment | Initial ASMs | Effective ASMs | Age at remission | Age at last follow up | Development |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1, M | BFIE | c.224C>T | +/– | 11 m | FBTC | NA | 18 m | LEV | LEV | 18 m | 4 y | Normal |
| P2, M | BFIE | c.284C>G | +/– | 4.5 m | FT | NA | 5 m | LEV | LEV | 5 m | 4 y 3 m | Normal |
| P3, M | PKD | c.439G>C | +/– | 13 y | Dystonia | NA | 15 y | LTG | OXC | 17 y | 17 y | Normal |
| P4, M | BFIE | c.615dupA | –/– | 5 m | FT, FBTC | NA | 5.5 m | LEV | LEV+PB | Lost to follow up | ||
| P5, M | BFIE | c.649dupC | –/+ | 3.5 m | FT | NA | 4 m | LEV | OXC | 4.5 m | 4 y 9 m | Normal |
| P6, F | BFIE | c.649dupC | +/– | 4.5 m | FBTC | NA | 5 m | LEV | LEV | 5 m | 4 y 1 m | Normal |
| P7, F | BFIE | c.649dupC | +/– | 3.5 m | FT, GTC | NA | 4 m | LEV | LEV+TPM | 12 m | 3 y 8 m | Normal |
| P8, F | BFIE | c.649dupC | +/– | 3.5 m | FBTC | NA | 4 m | LEV | LEV | 5 m | 3 y 8 m | Normal |
| P9, F | BFIE | c.649dupC | +/– | 3.5 m | FT | NA | 4 m | LEV | OXC | 5.5 m | 3 y 7 m | Normal |
| P10, F | BFIE | c.649dupC | +/– | 4 m | FT | NA | 4.5 m | LEV | LEV | 4.5 m | 3 y 5 m | Normal |
| P11, F | BFIE | c.649dupC | –/– | 5.5 m | FBTC | NA | 7 m | LEV | LEV | 7 m | 3 y 6 m | Normal |
| P12, M | BFIE | c.649dupC | –/+ | 5 m | FT | NA | 6 m | LEV | LEV | 8 m | 3 y 1 m | Normal |
| P13, F | BFIE | c.649dupC | –/– | 4.5 m | FT, FBTC | NA | 5 m | LEV | LEV | 5.5 m | 2 y 9 m | Normal |
| P14, M | BFIE | c.649dupC | +/– | 4 m | FT | NA | 4.5 m | LEV | LEV+VPA | 8 m | 2 y 9 m | Normal |
| P15, M | BFIE | c.649dupC | +/– | 3.5 m | FBTC | Temporal | 4 m | LEV | VPA | 4.5 m | 2 y 9 m | Autism |
| P16, F | BFIE | c.649dupC | +/– | 3.5 m | FT | Temporal | 4 m | VPA | VPA | 4 m | 2 y 9 m | Normal |
| P17, M | BFIE | c.649dupC | +/– | 3.5 m | FT, GTC | Frontal | 4 m | LEV | LEV | Lost to follow up | ||
| P18, M | BFIE | c.649dupC | –/– | 5.5 m | FT, GTC | NA | 5.5 m | LEV | LEV+VPA | 8 m | 2 y 8 m | Normal |
| P19, F | BFIE | c.649dupC | +/– | 4.5 m | FBTC | NA | 5 m | LEV | LEV | 6 m | 2 y 7 m | Normal |
| P20, M | BFIE | c.649dupC | +/+ | 4 m | FT, GTC | Frontal | 4.5 m | LEV | LEV | Lost to follow up | ||
| P21, M | BFIE | c.649dupC | +/– | 5.5 m | FBTC | Tem | 6 m | OXC | OXC | 6 m | 1 y 8 m | Normal |
| P22, M | BFIE | c.649dupC | +/– | 5 m | FT | NA | 6 m | OXC | OXC | 6 m | 1 y 8 m | Normal |
| P23, F | BFIE | c.649dupC | +/– | 4.5 m | FBTC | Frontal | 5 m | LEV | OXC | 5.5 m | 7 m | Normal |
| P24, F | BFIE | c.649dupC | +/– | 4 m | FT | NA | 4.5 m | LEV | LEV+PB | 5.5 m | 4 y 5 m | Normal |
| P25, M | BFIE | c.649dupC | –/– | 5 m | FT | NA | 5.5 m | LEV | LEV | Lost to follow up | ||
| P26, M | BFIE | c.649dupC | +/– | 5 m | FBTC | NA | 5.5 m | LEV | LEV | Lost to follow up | ||
| P27, M | BFIE | c.649dupC | –/– | 7.5 m | FT | NA | 8 m | OXC | OXC | Lost to follow up | ||
| P28, M | PKD | c.649dupC | –/+ | 9 y | Choreo-athetosis | NA | 9.5 y | OXC | OXC | Lost to follow up | ||
| P29, M | BFIE | c.649dupC | –/+ | 4.5 m | FT, GTC | Frontal | 5.5 m | LEV | OXC | 6 m | 2 y 1 m | Normal |
| P30, M | BFIE | c.649delC | +/– | 4.5 m | FT, GTC | Tempotal | 5 m | LEV | OXC | 11 m | 1 y 6 m | Normal |
| P31, M | BFIE | c.649delC | +/– | 6 m | FT | NA | 6.5 m | LEV | OXC | 7 m | 1 y 6 m | Normal |
| P32, M | BFIE | c.649delC | +/– | 4 m | FT | NA | 4.5 m | VPA | VPA | 6 m | 4 y | Normal |
| P33, F | BFIE | c.883_884insGGAA | +/– | 4.5 m | FBTC | NA | 5 m | LEV | LEV | 14 m | 3 y 1 m | Normal |
| P34, M | BFIE | c.879+4A>G | +/+ | 3.5 m | FBTC | NA | 4 m | OXC | OXC | Lost to follow up | ||
| P35, M | ICCA | c.914G>A | –/+ | 6 y | Choreo-athetosis | NA | 6 y | OXC | OXC | 6.5 y | 8 y | Normal |
| P36, M | ICCA | 16p11.2 Microdeletion | –/– | 10 y | Choreo-athetosis | NA | 12.5 y | OXC | OXC | 12.5 y | 13 y 9 m | DDID |
| P37, M | BFIE | WGD | +/– | 12 m | FBTC | NA | None | None | None | 14 m | 4 y 5 y | Normal |
| P38, F | BFIE | WGD | –/– | 3.5 m | FBTC | NA | 4 m | LEV | LEV | 8 m | 3 y 6 m | Normal |
| P39, M | BFIE | WGD | –/– | 3 m | FBTC | NA | 4 m | LEV | LEV+VPA | 5 m | 3 y 5 m | Normal |
| P40, F | BFIE | WGD | –/– | 8.5 m | FT | NA | 16 m | LEV | OXC | 26 m | 4 y | Normal |
| P41, F | BFIE | WGD | +/– | 4 m | FT | Occipital | 4.5 m | LEV | LEV+VPA | 12 m | 4 y 6 m | Normal |
| P42, M | BFIE | WGD | –/– | 5 m | FT | NA | 5 m | LEV | LEV | 14 m | 3 y | Normal |
| P43, M | BFIE | WGD | –/– | 8.5 m | FT, GTC | NA | 18 m | OXC | OXC | 18 m | 2 y 11 m | Normal |
| P44, M | BFIE | WGD | +/– | 8 m | FBTC | NA | None | None | None | 12 m | - | Death |
†
Self-limited non-febrile seizures during infantile period/paroxysmal kinesigenic dyskinesia. EEG, electroencephalogram; ASMs, antiseizure medications; M, male; F, female; BFIE, benign familial infantile epilepsy; PKD, paroxysmal kinesigenic dyskinesia; ICCA, infantile convulsions with choreoathetosis; m, month; y, year; GTC, generalized tonic-clonic seizure; FBTC, focal to bilateral tonic-clonic seizure; FT, focal tonic seizure; LEV, levetiracetam; OXC, oxcarbazepine; VPA, valproic acid; LTG, lamotrigine; DDID, developmental delay/intellectual disability. WGD, whole gene deletion.