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Table 4 Clinical features in DS patients

From: Novel and de novo mutations in pediatric refractory epilepsy

Case code

Gender/age

Diagosis

Age of onset

Seizure types

EEG

Brain MRI/CT

Developmental delay

Gene

cDNA change

Protein change

Parental Origin

ACMG pathogenicity

13

F/2y6m

DS

3m

FS, FoS, Myo

FSW

Normal

Yes

SCN1A

c.1513A > T

p.K505X

De novo

LP

23

F/3y

DS

7m

FS, FoS (A), Myo, FBTC

Multi. FD

Underdeveloped myelin

Yes

SCN1A

c.4331_4334del

p.E1444fs

De novo

P

26

F/5y11m

DS

5m

FS, SE, FoS (A), Myo, FBTC

FSW

Normal

Yes

SCN1A

c.3689T>C

p.L1230P

De novo

LP

35

M/4y

DS

3m

FS, SE, GTCS, aAb

Multi. FD

Normal

Yes

SCN1A

c.1934_1935del

p.V645fs

De novo

P

38

F/1y6m

DS

4m

FS, SE, Myo

FSW

Nonspecific

Yes

SCN1A

c.G4112T

p.G1371V

De novo

LP

53

M/5y

DS

7m

FS, aAb, Myo, Fos (I)

Multi. FD

Normal

Yes

SCN1A

c.2895_2926del

p.Q965fs

Unknown

LP

56

F/3y6m

DS

5m

FS, Myo, GTCS, SE, FoS (A), aAb

Multi. FD

Nonspecific

Yes

SCN1A

c.838T > C

p.W280R

De novo

P

65

M/2y4m

DS

5m

FS, SE, FoS (A)

FSW

Normal

Yes

SCN1A

c.4549-1G > C

splicing

De novo

P

115

M/2y1m

DS

8m

FS, FoS (I), FoS (hemi clonic), GTCS

FSW

Enlargement of the subarachnoid space in front of left temporal lobe

Yes

SCN1A

c.5138C > A

p.A1713D

De novo

LP

124

M/3y

DS

5m

FS, FoS (A), FBTC

FSW

Nonspecific

Yes

SCN1A

c.5314G > A

p.A1772T

De novo

P

130

F/11y

DS

6m

FS, FoS (A), aAb, Myo, GTCS

Multi. FD

Normal

Yes

SCN1A

c.4352_4356del

p.Y1451Cfs*22

De novo

P

140

F/1y9m

DS

3m

FS, GTCS, C, FoS (I)

FSW

Normal

Yes

SCN1A

c.539delT

p.L180X

De novo

P

148

F/6y8m

DS

4m

FS, GTCS, FoS, aAb

Multi. FD

Normal

Yes

SCN1A

c.1636G > T

p.E546X

Unknown

LP

149

M/3y6m

DS

4m

FS, FoS (A), Myo, GTCS

Multi. FD, GSW

Normal

Yes

SCN1A

c.2769G > A

p.M923I

Paternal (FS)

LP

162

M/4y

DS

5m

FS, FoS (A), Myo, FBTC

Multi. FD

Normal

Yes

SCN1A

c.5740_5742del

p.1914_1914del

De novo

LP

172

F/8y

DS

5m

FS, aAb, Myo, FBTC

Multi. FD, GSW, GPSW

Normal

Yes

SCN1A

c.1327G > T

p.E443X

De novo

P

  1. Abbreviations: M male, F female, m month, y year, P pathogenic, LP likely pathogenic, UC uncertain, DS Dravet syndrome, FS febrile seizures, SE status epilepticus, FoS focal seizures, FoS (I) focal seizures (impaired awareness), FoS (A) focal seizures (aware), FBTC focal to bilateral tonic-clonic, Myo myoclonic, aAb atypical absence, GTCS generalized tonic-clonic seizures, FSW focal spike wave, Multi. FD multifocal discharges, GSW generalized spike-wave, GPSW generalized polyspike-wave