Table 1.
Analysis of the aggregate frequency of BSN variants identified in this study
| Identified BSN variants | Allele count/number in this study | Allele count/number in gnomAD-all populations | Allele count/number in gnomAD-East Asian populations | Allele count/number in controls of gnomAD-all populations | Allele count/number in controls of gnomAD-East Asian populations | Homozygote count/number in gnomAD-all populations | |
| Variants from Epilepsy Centre of the Second Affiliated Hospital of Guangzhou Medical University | |||||||
| Case 1 | Chr3:49662601:c.418C>T/p.Arg140Trp Chr3:49700408:c.10817C>G/p.Ser3606Cys |
1/626 (0.0016) 1/626 (0.0016) |
10/221 818 (0.00004508) 1/251 264 (0.000003980) |
4/16 050 (0.0002492) 1/18 388 (0.00005438) |
5/97 838 (0.00005110) –/– |
2/8344 (0.0002397) –/– |
0 0 |
| Case 2 | Chr3:49680540:c.1473G>C/p.Gln491His Chr3:49695453:c.8464G>A/p.Val2822Met |
1/626 (0.0016) | –/– | –/– | –/– | –/– | –/– |
| 1/626 (0.0016) | 3/251 058 (0.00001195) | 0/18 392 (0) | 2/109 322 (0.00001829) | 0/9046 (0) | 0 | ||
| Case 3 | Chr3:49690185:c.3196C>T/p.Arg1066Cys Chr3:49699851:c.10573G>T/p.Gly3525Trp |
1/626 (0.0016) | 23/230 922 (0.00009960) | 1/18 510 (0.00009960) | 10/87 760 (0.0001139) | 0/8954 (0) | 0 |
| 1/626 (0.0016) | –/– | –/– | –/– | –/– | –/– | ||
| Case 4 | Chr3:49691347:c.4359_4361del/p.Leu1454del Chr3:49700516:c.10925C>T/p.Ala3642Val |
1/626 (0.0016) 1/626 (0.0016) |
2/251 342 (0.000007957) 1/248 246 (0.000004028) |
2/18 394 (0.0001087) 1/18 278 (0.00005471) |
1/109 382 (0.000009142) 1/108 034 (0.000009256) |
1/9046 (0.0001105) 1/8974 (0.0001114) |
0 0 |
| Case 5 | Chr3:49700563:c.10559C>T/p.Pro3520Leu | 1/626 (0.0016) | –/– | –/– | –/– | –/– | –/– |
| Total | 9/626 (0.0144) | 40/221 818 (0.00018) | 9/16 050 (0.00056) | 19/87 760 (0.00022) | 4/8344 (0.00048) | 0 | |
| P value | 1.943e−14 | 5.02e−09 | 2.595e−13 | 2.06e−08 | |||
| OR (95% CI) |
80.79797 (34.35069–169.99028) |
25.97851 (9.102645–74.285905) |
67.30892 (26.73007–156.66261) |
30.38158 (8.451071–135.366707) |
|||
| Variants from China Epilepsy Gene V.1.0 Matching Platform | |||||||
| Case 6 | Chr3:49700563:c.10972A>T/p.Thr3658Ser | –/– | –/– | –/– | –/– | –/– | |
| Case 7 | Chr3:49690311:c.3322G>T/p.Glu1108Ter | –/– | –/– | –/– | –/– | –/– | |
| Case 8 | Chr3:49694340:c.7351C>T/p.Gln2451Ter | –/– | –/– | –/– | –/– | –/– | |
P values and ORs were estimated with two-sided Fisher’s exact test.
gnomAD, Genome Aggregation Database.