TABLE 1.
Summary of clinical features of participants’ children
|
Case [Case # in previous publication] |
Age at study (gender) | Epilepsy syndrome | Gene | Variant | Inheritance | Sz onset age [offset] | Developmental delay diagnosis |
Cognitive outcome |
Time elapsed between seizure onset and genetic diagnosis (Year) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 5 y (F) | West | ALG13 |
c.320A > G p.Asn107Ser |
de novo | 4 mo | 4 mo | Severe ID | 4 y 8 mo (2017) |
| 2 27 [T21213] | 17 y (F) | DEE unspecified | GABRB2 | c.911C > T p.Ala304Val | de novo | 4 y | 6 mo | Profound ID | 11 y (2017) |
| 3 | 6 y (F) | Dravet | SCN1A | c.384‐2 A > G | de novo | 6 mo | 6 mo | Severe ID | 6 mo (2013) |
| 4 | 8 y (F) | DEE unspecified | CDKL5 | Exon 4 Deletion | de novo | 5 wk | 3 mo | Profound ID | 1 y 8 mo (2013) |
| 5 28 [13] | 5 y (F) | DEE unspecified | EEF1A2 | c.1150G > C p.Gly384Arg | de novo | 1 d | 5 mo | Profound ID | 1 y (2015) |
| 6 29 [B3] | 17 y (F) | GCE | PCDH19 | c.1919T > G p.Leu640Arg | de novo | 16 mo [11 y 8mo] | 3 y 7 mo | Borderline ID | 7 y 8 mo (2011) |
| 7a 29 [A1] | 12 y (F) | GCE | PCDH19 | c.497_498insA p.Tyr166* | de novo | 10 mo [5 y2 mo] | 3 y 3 mo | Severe ID | 4 y 2 mo (2011) |
| 7b 29 [A2] | 12 y (F) | GCE | PCDH19 | c.497_498insA p.Tyr166* | de novo | 10 mo [5 y 2 mo] | 3 y 4 mo | Mild ID | 4 y 2 mo (2011) |
| 8 30 [55] | 32 y (M) | Dravet | SCN1A | c.512T > A p.Ile171Lys | de novo | 7 mo | 7 mo | Severe ID | 23 y 5 mo (2010) |
| 9 30 [68] | 32 y (F) | Dravet | SCN1A |
c.4062delT p.Asp1355Thrfs*8 |
de novo | 5 mo | 2 y 6 mo | Severe ID | 23 y 7 mo (2010) |
| 10 | 7 y (M) | Dravet | SCN1A | c.5347G > A p.Ala1783Thr | de novo | 6 mo | 2 y | Moderate ID | 1 y 6 mo (2013) |
| 11 29 [E7] | 26 y (F) | GCE | PCDH19 |
c.2534C > T p.Ser845Asn |
Mother negative, father not tested | 8 mo | 11 mo | Moderate ID | 23 y 4 mo (2017) |
| 12 | 12 y (F) | Epilepsy with Myoclonic atonic seizures | SCN1A | c.32C > A p.Pro11His | Maternally inherited | 2 y [3 y] | 2 y | Normal | 5 y (2013) |
| 13 | 7 y (F) | Early‐onset epileptic encephalopathy | KCNQ2 | c.1700T > A p.Val567Asp | de novo | 4 d [10 mo] | 9 mo | Severe ID | 3 y (2015) |
| 14a 29 [C5] | 31 y (F) | GCE | PCDH19 | Exon 6 deletion | Maternally inherited | 14 mo [22 y] | 1 y 1 mo | Mild ID | 22 y 4 mo (2012) |
| 14b 29 [C4] | 27 y (F) | GCE | PCDH19 | Exon 6 deletion | Maternally inherited | 19 mo [21 y] | 1 y 6 mo | Mild ID | 18 y 3 mo (2012) |
| 15 | 22 y (F) (Died) | DEE unspecified | PAFAH1B1 | Intronic deletion | de novo | 11 y [22 y‐died] | 2 y | Mild ID | 2 y (2005) |
In the case column, the superscript number denotes the reference number of the paper in which this individual has been previously published. The case # denotes the specific patient identification number in that publication.
Abbreviations: d, days; DEE, developmental and epileptic encephalopathy; F, female; GCE, girls clustering epilepsy; ID, intellectual disability; M, male; mo, months; wk, weeks; y, years.