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. 2022 Feb 22;13(4):270–281. doi: 10.1159/000521330

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+

2 F 4 months FMS FMS
MS
N + + Language delay 24 months LEV, PB DS

3 F 5 months FS FS
MS
N + + Language delay 5 years LEV, PB DS

4 F 4.5 months FS FS
MS
N + + Language delay 6 years LEV, PB DS

5 F 9 days FMS FS
FIAS
Right centrotemporal + 4 years VPA GEFS+

6 M 3 months FS Febrile SE
SGS
MS
Slow background multifocal + + + Ataxia 5 years VPA, CLB STP DS

7 F 3 months FS Febrile SE
SGS
MS
Slow background multifocal + + Ataxia 3 years VPA, CLB DS

8 F 6 months FMS Febrile SE
SGS
MS
N + + + Ataxia 3 years VPA, CLB DS

9 F 12 months FS Febrile SE
SGS
Bilateral centrotemporal + Language delay 12 months VPA GEFS+

10 F 5 months FS FS
SGS
N + + Ataxia 3 years VPA, CLB DS

11 F 3 months FMS FS
SGS
FMS
Slow background multifocal + + Ataxia 3 years VPA, CLB DS

12 M 9 months FS FS
MS
N + + Ataxia 4 years VPA DS

13 F 2.5 years FS FS
SGS
Bifrontal generalized 1.5 years VPA GEFS+

14 M 5 months FS FS
SGS
Right centrotemporal + + Ataxia 4 years VPA, LEV, STP, CLB DS

15 M 2.5 years FS FS+
MS
N + 5 years PB GEFS+

16 M 3 months FS FS
SGS
Right centroparietal + + Language delay, ataxia 6 years PB DS

17 M 6 months FS Febrile SE
SGS
MS
Left centro-parietal occipital + + Ataxia 9 years VPA, CLB DS

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.