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 |