Table 6.
Clinical features of patients with SCN1A variants
| Patient | Sex | Age of onset | Clinical onset | All types of seizures | EEG features | Fever sensitivity | Vaccine-associated | Developmental delay | Other symptoms | Follow-up period | All types of ASMs used | Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 9 months | FS | FS+ SGS |
N | + | − | − | Language delay | 18 months | VPA | GEFS+ |
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| 2 | F | 4 months | FMS | FMS MS |
N | + | − | + | Language delay | 24 months | LEV, PB | DS |
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| 3 | F | 5 months | FS | FS MS |
N | + | + | − | Language delay | 5 years | LEV, PB | DS |
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| 4 | F | 4.5 months | FS | FS MS |
N | + | + | − | Language delay | 6 years | LEV, PB | DS |
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| 5 | F | 9 days | FMS | FS FIAS |
Right centrotemporal | + | − | − | − | 4 years | VPA | GEFS+ |
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| 6 | M | 3 months | FS | Febrile SE SGS MS |
Slow background multifocal | + | + | + | Ataxia | 5 years | VPA, CLB STP | DS |
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| 7 | F | 3 months | FS | Febrile SE SGS MS |
Slow background multifocal | + | − | + | Ataxia | 3 years | VPA, CLB | DS |
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| 8 | F | 6 months | FMS | Febrile SE SGS MS |
N | + | + | + | Ataxia | 3 years | VPA, CLB | DS |
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| 9 | F | 12 months | FS | Febrile SE SGS |
Bilateral centrotemporal | + | − | − | Language delay | 12 months | VPA | GEFS+ |
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| 10 | F | 5 months | FS | FS SGS |
N | + | − | + | Ataxia | 3 years | VPA, CLB | DS |
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| 11 | F | 3 months | FMS | FS SGS FMS |
Slow background multifocal | + | − | + | Ataxia | 3 years | VPA, CLB | DS |
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| 12 | M | 9 months | FS | FS MS |
N | + | − | + | Ataxia | 4 years | VPA | DS |
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| 13 | F | 2.5 years | FS | FS SGS |
Bifrontal generalized | − | − | − | − | 1.5 years | VPA | GEFS+ |
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| 14 | M | 5 months | FS | FS SGS |
Right centrotemporal | + | − | + | Ataxia | 4 years | VPA, LEV, STP, CLB | DS |
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| 15 | M | 2.5 years | FS | FS+ MS |
N | + | − | − | − | 5 years | PB | GEFS+ |
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| 16 | M | 3 months | FS | FS SGS |
Right centroparietal | + | − | + | Language delay, ataxia | 6 years | PB | DS |
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| 17 | M | 6 months | FS | Febrile SE SGS MS |
Left centro-parietal occipital | + | − | + | Ataxia | 9 years | VPA, CLB | DS |
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| 18 | F | 1.5 years | FS | FS+ SGS |
N | + | − | − | − | 4 years | VPA | GEFS+ |
DS, Dravet syndrome; GEFS+, genetic epilepsy with febrile seizures plus; EEG, electroencephalogram; ASMs, antiseizure medications; M, male; F, female; N, normal; FS, febrile seizures; MS, myoclonic seizures; FMS, focal motor seizures; SE, status epilepticus; SGS, secondary generalized seizure; FIAS, focal impaired awareness seizures; LEV, levetiracetam; VPA, valproic acid; PB, phenobarbital; CLB, clobazam; STP, stiripentol.