Table 1.
Case ID | SCN1A mutations | Type of mutations | Seizure typesa | AEDs tried before the introduction of stiripentolb | Age at introduction of stiripentol (years) |
---|---|---|---|---|---|
1 | c.4568T>C | Missense | Atonic, GTC, myoclonic | Carbamazepine, clonazepam, ethosuximide, lamotrigine, levetiracetam, nitrazepam, phenobarbitone, phenytoin, piracetam, primidone, topiramate, vigabatrin | 41 |
2 | c.80G > C; c.3749C > T; c.3706‐2A > G | Missense, missense, splice‐site | Focal, GTC, tonic | Carbamazepine, clonazepam, gabapentin, lamotrigine, levetiracetam, phenobarbitone, phenytoin, sodium valproate | 15 |
3 | c.2792G>A | Missense | Focal, GTC | Clobazam, lacosamide, lamotrigine, levetiracetam, pregabalin, topiramate, zonisamide | 44 |
4 | c.4369_4372dupCTGT | Premature STOP codon | Focal, GTC, myoclonic | Carbamazepine, clobazam, ethosuximide, oxcarbazepine, piracetam | 29 |
5 | c.603‐2A>G | Splice‐site | Focal, sGCT | Carbamazepine, ethosuximide, lamotrigine, levetiracetam, phenobarbitone, phenytoin, pregabalin, topiramate, vigabatrin | 25 |
6 | c.429delGT | Premature STOP codon | Focal, GTC, myoclonic | Carbamazepine, clonazepam, ethosuximide, lamotrigine, piracetam | 14 |
7 | c.2244G>A | Premature STOP codon | Focal, GTC, myoclonic | Acetazolamide, carbamazepine, clobazam, clonazepam, diazepam, ethosuximide, lamotrigine, levetiracetam topiramate, vigabatrin | 16 |
8 | c.4913T>C | Missense | Focal, GTC, myoclonic | Carbamazepine, gabapentin, oxcarbazepine, phenytoin, sodium valproate, topiramate, vigabatrin | 23 |
9 | c.5639G>A | Missense | Atypical absences, focal, myoclonic | Primidone, topiramate | 47 |
10 | c.2837G>A | Missense | GTC, myoclonic | Clobazam, lamotrigine, levetiracetam, phenytoin | 28 |
11 | c.2293G>A | Missense | Atypical absences, focal, GTC | Acetazolamide, carbamazepine, clonazepam, lamotrigine, nitrazepam, topiramate, vigabatrin, zonisamide | 30 |
12 | Not detected | – | Absences, atonic, clonic, focal, GTC, myoclonic, tonic | Carbamazepine, gabapentin, lamotrigine, phenytoin, vigabatrin | 12 |
13 | c.5359G>A | Missense | Atonic, clonic, focal, GTC, hemi‐clonic, myoclonic, tonic | Carbamazepine, clobazam, clonazepam, gabapentin, lamotrigine, phenobarbitone, phenytoin, topiramate | 12 |
AED, antiepileptic drugs; GTC, generalized tonic clonic seizures; sGTC, generalized tonic clonic seizure with apparent focal onset.
Seizure types were clinically determined.
AEDs are not listed in the temporal order of introduction.