Table 3.
Phenotypes, treatment and outcomes of the patients with missense and non-frameshift pathogenic variants
| Patient number | Pathogenic variant type | Sex | Current age (y) | Diagnosis | Seizure onset age | Initial seizure semiology (s) | Latest seizure semiology (s) | EEG manifestations | MRI findings | Previous medicine (s) | Recent medicine (s) | Efficient medicine (s) | Seizure outcome (age) | Muscle tone | Degree of ID/GDD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | Missense | F | 5.4 | OS evolved to WS | 2m10d | FS | TS, S, FMS, FCS | H/BS/M | A | TPM,VPA, ACTH and PRD | LEV | ACTH and LEV | NSF | High | Profound |
| P3 | Missense | F | 5.3 | EOEE evolved to WS | 16d | FS | FS, S | M | N | PB and LEV | LEV | PB and LEV | SF (0.3 y) | Normal | Severe |
| P4 | Missense | M | 11.3 | WS | 2 m | TCS, S | TCS, S | ESE/H/ M | A | VPA, TPM, ACTH and PRD | No medication | VPA and ACTH | SF (1 y) | High | Profound |
| P5 | Missense | M | Died | OS evolved to WS | 2d | FS, S | TS, S, FS, | H/BS | A | LEV | Died | - | Died (2 y) | High | Died |
| P6 | Missense | F | 9.8 | ID, EP | 7 m | TS | TS | No results | No results | No medicine | No medicine | No medicine | NSF | Low/high | Profound |
| P7 | Missense | M | 4.8 | OS evolved to WS | 1m19d | S | S, FS, FS-GTS | H/BS/W/F | N | LEV, TPM, ACTH, CZP, and NZP | LEV | ACTH | SF (0.6 y) | Normal | Severe |
| P8 | Missense | M | Died | OS evolved to WS | 2m28d | TS, S | S, TS | BS/F | A | VPA and ACTH | Died | None | Died (0.5 y) | Normal | Died |
| P9 | Missense | F | 9 | OS evolved to WS | 0.5 m | S, TS | S, FS, T | H/BS/M/W | N | TPM, ACTH, PRD, LEV, NZP, and VNS | LEV, TPM | None | NSF | High | Profound |
| P12 | Missense | M | 7.8 | ID | 10 m | Not applicable | Not applicable | Slow back ground | N | Not applicable | Not applicable | Not applicable | Not applicable | High | Profound |
| P13 | Missense | F | 13 | ID, EP | 5 m | TS | TS | W | A | LEV | No medication | LEV | SF (10y) | Normal | Moderate |
| P14 | Missense | F | 4.1 | GDD, EP | 1y3m | TS | TS, FS | M | N | VPA and LEV | LEV | LEV | NSF | Normal | Mild |
| P15 | Missense | F | 5.6 | WS | 2d | FS | FS, S | M | N | TPM and VPA | TPM, VPA | TPM and VPA | SF (2y) | Low | Severe |
| P16 | Non frameshift | F | 5.8 | WS | 7d | S | S, TS | H/W | N | VPA, ACTH, and VGB | VPA | ACTH and VGB | NSF | Low | Severe |
| P17 | Missense | F | 5.4 | EOEE evolved to WS | 1m23d | FS | FS, TS, S | W | N | LEV, TPM, and VPA | LEV and VPA | LEV and VPA | SF (2y) | Normal | Profound |
| P18 | Non frameshift | F | 5.4 | EOEE evolved to WS | 4 m | TS | TS, S, FS, | W/H/F | N | LEV, VPA, ACTH, KD, VGB, and CLB | VGB | LEV, VPA and VGB | NSF | Low | Profound |
Abbreviations: A; abnormal, BS; burst-suppression, d; day, EOEE; early onset epileptic encephalopathy, EEG; electroencephalography, ESE; epileptic status epilepticus, F; female, FCS; focal-clonic seizures, FS; focal seizures, FS-GTCS; focal seizures secondary to generalized tonic-clonic seizures, FS-S; focal spasm seizures, AAS; atypical aphasia, GDD; global developmental delay, H; hypsarrhythmia, ID; intellectual disability, m; month, M; male; MRI; magnetic resonance imaging, M; multifocal discharge, N; normal, OS- ohtahara syndrome, S; spasms seizures, TS; tonic seizures, TCS; tonic clonic seizures, W; widespread discharge, WS; west syndrome, ACTH; adrenocorticotropic hormone, CZP; clonazepam, KD; ketogenic diet, LEV; levetiracetam, NZP; nitrazepam, PRD; prednisone tablets, PB; phenobarbital, P; patient, TPM; topiramate, VPA; sodium valproate, VGB; vigabatrin, CLB; clobazam, VNS; vagus nerve stimulation, SF; seizure free, NS; not seizure-free