Table 2.
Selected Inherited CNVs
| Trio | CNV (inheritance) | Size, kb | No. of Genes; Possible EE Candidates | Causative d.n. SNV? | Validation Platform |
|---|---|---|---|---|---|
| Large [>500kb] inherited CNVs | |||||
| jp | 2p22 dup (paternal) | 620 | 3 genes; BIRC6, TTC27, LTBP1 | No | SNP |
| ip | 17q dup (paternal) | 737 | 13 genes | No | CGH |
| ad | 10q21 del (maternal) | 858 | 1 gene; PCDH15 | No | SNP |
| jg | 4p16 dup (maternal) | 885 | 5 genes | WDR45 frameshift | SNP |
| ki | 7q11 dup (paternal) | 1,000 | 9 genes | DNM1 missense | SNP |
| dg | Xp22 del (paternal) | 1,900 | 8 genes | ALG13 missense | h.c. |
| bj | Xp22 dup (maternal) | 2,000 | 9 genes | No | h.c. |
| gq | 1q31 dup (paternal) | 8,800 | 23 genes | No; de novo 15q11 dup | CGH, SNP |
| Recurrent CNV regions previously associated with epilepsy | |||||
| j | 16p13 dup (paternal) | 30 | NTAN1, PDXDC1 (16p13.11) | No | h.c. |
| r | 16p13 dup (maternal) | 58 | ABCC1, ABCC6 (16p13.11) | No | h.c. |
| d | 15q11.2 del (maternal) | 213 | NIPA2, CYFIP1 | No | h.c. |
| in | 15q11.2 del (paternal) | 213 | NIPA2, CYFIP1 | No | SNP |
CGH = comparative genome hybridization; CNV = copy number variant; d.n. = de novo; EE = epileptic encephalopathy; h.c. = high‐confidence CNV call by CoNIFER; SNP = single nucleotide polymorphism; SNV = single nucleotide variant.