Table 4.
Clinical features in DS patients
| 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 |
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