Table 1.

Details of SCN1A mutations, seizure types, AED history, and age at introduction of stiripentol

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.

^aSeizure types were clinically determined.

^bAEDs are not listed in the temporal order of introduction.