Table 2.
Eighteen identified syndromes.
| Case No | Seizure type | ID/GDD category | CNV | Genomic coordinates (NCBI 37/hg19) | Associated genetic syndrome |
|---|---|---|---|---|---|
| 2 | Tonic | Severe | Unknown inheritance 17p13.1-p13.1 del (380 Kb) | Chr17: 6861627–7241627 |
17p13.1 microdeletion syndrome (OMIM 613776) |
| 5 | Focal | Severe | De novo 1q21.1-q21.2 del (3.99 Mb) | Chr1: 143896003–147888300 |
1q21.1 recurrent microdeletion syndrome (OMIM 612474) |
| 7 | Myoclonus | Severe | Unknown inheritance 15q11.2-q13.1 del (4.92 Mb) | Chr15: 23609854–28526207 |
Angelman syndrome (OMIM 105830) |
| 8 | Focal | Moderate | Unknown inheritance 15q11.2-q13.1 del (4.93 Mb) | Chr15: 23609854–28536207 |
Prader-Will syndrome (OMIM 176270) |
| 9 | Focal | Severe | Unknown inheritance 16p11.2-p11.2 del (550 Kb) | Chr16: 29661922–30211922 |
16p11.2-p12.2 microdeletion syndrome (OMIM 613604) |
| 13 | Tonic-clonic | Severe | Unknown inheritance Xq28-q28 dup (340 Kb) | ChrX: 153232100–153572100 | Lubs X-linked mental retardation syndrome (OMIM 300260) |
| 15 | Tonic | Severe | Unknown inheritance 15q11.2-q13.1 del (5.15 Mb) | Chr15: 23609854–28756207 |
Prader-Willi syndrome (OMIM 176270) |
| 16 | Tonic | Moderate | Unknown inheritance Xq28-q28 dup (210 Kb) | ChrX: 153362100–153572100 | Lubs X-linked mental retardation syndrome (OMIM 300260) |
| 17 | Focal, spasm | Severe | Unknown inheritance 1p36.33-p36.33 del (1.10 Mb) | Chr1: 746369–1846369 |
1p36 microdeletion syndrome (OMIM 607872) |
| 18 | Focal | Moderate | Unknown inheritance 16p11.2-p11.2 del (640 Kb) | Chr16: 29571922–30211922 |
16p11.2-p12.2 microdeletion syndrome (OMIM 613604) |
| 20 | Focal | Severe | De novo 1q44q44 del (4.6Mb) | Chr1: 244307212–248903211 |
1q43q44 microdeletion syndrome(OMIM 612337) |
| De novo 3q29-q29 dup (880Kb) | Chr3: 195732252–196612252 |
3q29 microduplication syndrome (OMIM 611936) | |||
| 21 | Tonic | Moderate | Unknown inheritance Xq28-q28 dup (210 Kb) | ChrX: 153362100– 153572100 | Lubs X-linked mental retardation syndrome (OMIM 300260) |
| 23 | Tonic | Severe | Unknown inheritance 15q11.2-q13.1 del (6.01 Mb) | Chr15: 22751194–28756207 |
Angelman syndrome (OMIM 105830) |
| 25 | Tonic | Moderate | De novo 16p11.2-p11.2 del (640 Kb) | Chr16: 29571922–30211922 |
16p11.2-p12.2 microdeletion syndrome (OMIM 613604) |
| 26 | Tonic | Moderate | Unknown inheritance 1p36.32-p36.23 del (5.3 Mb) | Chr1: 3417960–8774451 |
1p36 microdeletion syndrome (OMIM 607872) |
| 27 | Focal | Severe | De novo 2q33.1-q34 del (8.9 Mb) | Chr2: 202781244–211695915 |
2q33.1 deletion syndrome/Glass syndrome (OMIM 612313) |
| 28 | Focal | Severe | Unknown inheritance 4p16.3-p16.1 del (7.3 Mb) | Chr4: 68345–7109830 |
Wolf-Hirschhorn syndrome (OMIM 194190) |
M, male; F, female; Del, deletion; Dup, duplication; ID, intellectual disability; GDD, global developmental delay; EP, epilepsy; OMIM, Online Mendelian Inheritance in Man.