Patient number | Pathogenic variant type | Sex | Current age | Diagnosis | Seizure onset age | Initial seizure semiology (s) | Latest seizure semiology (s) | EEG manifestations | MRI findings | Previous drug (s) | Current drug (s) | Efficient drug (s) | Seizure outcome | Muscle tone | Degree of ID/GDD |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P2 | Splice | F | 6.8y | OS evolved to WS | 8d | FS | FS, TS, S | H/BS/W | N | ACTH, PRD, NZP, and LEV | VPA, TPM, and CBZ | ACTH and LEV | NSF | High | Profound |
P10 | Splice | F | 9.6y | EOEE evolved to WS | 2Â m | FS | S, FS | H | N | ACTH, PRD, VPA, and NZP | None | ACTH and NZP | SF (8y) | High/Low | Profound |
P11 | Frameshift | M | Died (7y) | EOEE evolved to WS | 1d | TS | TS, S, AAS | H/W/M | N | LEV, ACTH, PRD, VPA, TPM, and NZP | Died(7y) | LEV, ACTH and TPM | Died (7y4m) | High | Profound |
P19 | Nonsense | M | 7.6y | OS evolved to WS | 2Â m | TS, FS | TS, FS, S | BS/H/M | N | TPM, VPA, VGB, and LEV | LEV and VPA | VPA, VGB and LEV | NSF | Low | Profound |