TABLE 2.
Phenotype‒genotype and functional results from our and previous reported publication
| Pub | Proteinchanges | Functionalchanged | S ageOnset age | Seizuretype | DD | Seizure improveWith SCBs | Other phenotypesphenotype |
|---|---|---|---|---|---|---|---|
| 8 | R102S | LOF | 1 y 7 m | Atonic | Severe | — | Choreoathetosis |
| 1 | V423L | GOF | 1 d | Tonic | — | No | Hypotonia |
| 23 | T733I | GOF | 1 d | Myoclonic | Profound | No | |
| 22 | R853Q | LOF | >3 m | Spasms | Moderate | Worsen,PHT | Choreoathetosis |
| 1 | G899S | LOF | 3 m | Hemiclonic | Moderate | Worsen, OXC | — |
| / | E999K | GOF | 1 d | Tonic | Severe | Improved, PHT | — |
| 9 | E1211K | MIX | 11 m | Spasms | Severe | No | Fever trigged |
| 21 | R1312T | LOF | Not clear | Not clear | — | — | Not clear |
| / | N1339D | GOF | 2 m | Tonic | Severe | Improved, PHT | Brain atrophy |
| 19 | L1342P | GOF | Not clear | — | — | — | — |
| 24 | I1473M | GOF | 1 m | Clonic | — | Improved, LID | — |
| / | I1571T | GOF | 2 d | Tonic | Severe | Improved,OXC | — |
| 1 | F1597L | GOF | 3 d | Tonic | Severe | Improved,PHT | Dysautonomia, irritability |
| / | P1658S | LOF | 3m | Tonic | Moderate | No | Choreoathetosis |
| / | A1773T | LOF | 11m | Spasms | — | Worsen.OXC | — |
| 19,25 | E1803G | GOF | 3d | Myoclonic | Severe | Yes | — |
| 22 | R1882Q | GOF | 1d | Focal | Severe | Improved,PHT | — |
Pub, means reference numbers of each variant;/, means variants from our study; Protein, protein change of each variant; Functional, functional change of each variant; LOF, loss of function; GOF, gain of function; MIX, mix of LOF and GOF; S age, seizure onset age; DD, degree of developmental delay; PHT, phenytoin; OXC, oxcarbazepine; Lid, Lidocaine;‐,means not mentioned from studies