Table S1.
Clinical and demographic data of patient group.
| Case no. | Sex | Age at MRI (mon) | Age at seizure onset (mon) | Initial seizure type | Associating factor | Other seizure type | SE | Cognitive and behavioral outcome | Resistance to multiple AEDa | Ataxia | SCN1A mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 27 | 3.8 | CPS | Fever | Atypical absence, focal motor, 2ndary GTCs | Y | Moderate MR | Y | N | c.G5596A p.Asp1866Asn |
| 2 | F | 53 | 37.5 | GTCs | Fever | Myoclonic seizure | Y | Moderate MR | Y | N | c.1630delA p.Thr544HisfsX14 |
| 3 | F | 40 | 6.6 | Focal motor seizure | UK | Atypical absence, focal motor, tonic, 2ndary GTCs | Y | Moderate MR | Y | N | c.602 + 1G > C |
| 4 | M | 85 | 4.5 | CPS | UK | Hemiclonic, 2ndary GTCs, myoclonic, absence seizure | N | Severe MR | Y | N | c.C1088G p. Thr363Arg |
| 5 | F | 24 | 4.8 | Focal motor seizure | Fever | Focal motor, 2ndary GTCs, CPS, myoclonic, tonic seizure | Y | Moderate MR | Y | N | c.1212A > G, c.2292 T > C |
| 6 | F | 104 | 3.6 | CPS | Fever | 2ndary GTCs, tonic seizure | Y | Mild MR | N | N | c.C479A p.Thr160Asn |
| 7 | M | 29 | 15.9 | GTCs | Fever | None | N | Normal until 2.4yr | UK | N | c.1217T > G p.Val406Gly |
| 8 | M | 30 | 5.3 | GTCs | Fever | None | N | Mild MR | Y | N | c.3598T > C p.Cys1200Arg |
| 9 | F | 34 | 2.5 | Hemiclonic seizure | Fever | CPS, 2ndary GTCs, tonic seizure | Y | Mild MR | Y | N | c.4188C > A p.Cys1396X |
| 10 | F | 126 | UK | UK | Fever | GTCs, CPS | N | Normal until 10 yr | Y | N | c.2911G > A p.Val971lle |
| 11 | F | 76 | 5.0 | GTCs | Fever | CPS | Y | Moderate MR | Y | N | c.3340_3343del p.Thr1114TyrfsX5 |
| 12 | F | 78 | 14.7 | UK | Fever | CPS, GTCs, | Y | Mild MR | Y | N | c.1129C > T p.Arg377Tre |
| 13 | F | 40 | 9.8 | UK | Fever | CPS | Y | Normal until 2.8 yr | N | N | c.4096G > A p.Val13661le |
| 14 | F | 88 | 8.0 | UK | Fever | CPS, 2ndary GTCs | Y | Mild MR | Y | N | c.1549G > T p.Glu517X |
| 15 | F | 32 | 9.9 | GTCs | Fever | 2ndaryGTCs, myoclonic, CPS, atypical absence |
N | Mild MR | Y | Y | c.4216G > A p.Ala1406Thr |
| 16 | F | 38 | 6.7 | GTCs | Fever | 2ndary GTC, CPS, tonic seizure | N | Mild MR | Y | N | c.2854T > C p.Trp952Arg |
| 17 | M | 52 | 5.3 | GTCs | Fever | 2ndary GTC, focal clonic, CPS | N | Mild MR | Y | N | c.3946A > T p.Arg1316Trp |
| 18 | M | 85 | 7.7 | GTCs | Fever | 2ndary GTC, myoclonic, atypical absence, focal motor, tonic | N | Moderate MR | Y | Y | c.3160C > T p.Gln1036X |
| 19 | M | 42 | 5.2 | CPS | Fever | Atypical absence, myoclonic, CPS,2ndary GTC, focal motor | N | Moderate MR | Y | Y | c.4488delA p.Asp1497ThrfsX4 |
| 20 | F | 38 | 3.0 | Hemiclonic seizure | Fever | CPS, 2ndary GTC, myoclonic seizure | Y | Mild MR | Y | Y | c.4539dupA p.Leu1514IlefsX23 |
| 21 | M | 96 | 2.8 | Hemiclonic seizure | Fever, vaccination | Focal clonic, 2ndary GTC, CPS | N | Moderate MR | Y | N | c.596_602 + 3del p.Thr199SerfsX15 |
CPS, complex partial seizure;GTCs, Generalized tonic clonic seizure; MR, mental retardation; MRI, meganetic resonance imaging; N, no; SE, status epilepticus; UK, unknown; Y, yes.
a
Failture to become seizure free with adequate trials of two seizure medications during 6 months.