Table 2 Reported pathogenic copy number variations which associate with ESESS/CSWSS/epilepsy-aphasia spectrum
From: Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review
Chromosomal location | Coordinates | Type of aberration | Size | Number genes | Gene associated with ESESS/CSWSS | Number of cases | Associated syndromes or diagnosis | Spike-Wave Index | Underlying pathway | Author and date |
|---|---|---|---|---|---|---|---|---|---|---|
8q12.3q13.2 | Chr8:65,236,018–68,801,113 | Del | 3.57 Mb | 27 | Unknown | 1 | ESESS/CSWSS | 60–70% | Unknown | Willem M.A et al. 2011 [52] |
Xp11.22–11.23. | Unknown | Dup | 0.8–9.2 Mb. |  | Unknown | 5 | Microduplication syndrome | Unknown | Unknown | Giorda R et al. 2009 [53] |
16p13 | Chr16:10,246,239–10,354,862 | Del | 109Kb | 1 | GRIN2A | 4 | ESESS/CSWSS | > 50% | Channelopathy | Lesca et al., 2012 [12], Constanze Reutlinger et al. 2010 [54] |
8p23.3 | Unknown | Del | 1.8-Mb | 3 | FBXO25 | 2 | 8p deletion syndrome | 20–30% | Unknown | Tojo Nakayama et al. 2012 [55] |
9p24.2 | Unknown | Dup | 2.6-Mb |  | Unknown | 2 | 9p duplication syndrome | 50–60% | Unknown | Tojo Nakayama et al. 2012 [55] |
14q21.3 | Chr14:47,592,578–47,662,394 | Del | 70Kb | 1 | MDGA2 | 1 | ESESS/CSWSS | > 50% | Metabolism of proteins | Lesca et al. 2012 [12] |
22q13.32-q13.33 | Chr22:49,346,697–51,219,009 | Del | 1.9 Mb | 45 | SHANK3 | 1 | ESESS/CSWSS | > 50% | Synapse connection | Lesca et al. 2012 [12] |
16q23.3 | Chr16:83,599,498–83,857,382 | Del | 258Kb | 2 | CDH13 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca et al. 2012 [12] |
15q13.3 | Chr15:29,000,000–30,400,000 | Del | 1.4 Mb | 7 | CHRNA7 | 1 | LKS | > 75% | Cholinergic pathway | Kevelam SH et al. 2012 [20] |
Xp22.11 | ChrX:24,270,000–24,760,000 | Dup | 490Kb | 3 | PCYT1B | 1 | ESESS/CSWSS | > 75% | Cholinergic pathway | Kevelam SH et al. 2012 [20] |
5p12 | Chr5:43,820,000–44,380,000 | Dup | 560Kb | 1 | FGF10 | 1 | ESESS/CSWSS | > 75% | Growth factor activity. | Kevelam SH et al. 2012 [20] |
5q31.3 | Chr5: 141,970,000–142,430,000 | Dup | 560Kb | 2 | FGF1, ARHGAP26 | 1 | ESESS/CSWSS | > 75% | Cell growth | Kevelam SH et al. 2012 [20] |
16q23.1 | Chr16: 75,750,000–76,220,000 | Dup | 470Kb | 2 | ADAMTS18, MON1B | 1 | ESESS/CSWSS | > 75% | Metabolism of proteins | Kevelam SH et al. 2012 [20] |
9q34.3 | Chr9: 138,150,000–138,380,000 | Dup | 230Kb | 5 | LHX, QSOX2, GPSM1, CORF151, CARD9 | 1 | ESESS/CSWSS | > 75% | Cell apoptosis | Kevelam SH et al. 2012 [20] |
15q11.2–13.1 | Unknown | Dup | Unknown |  | Unknown | 15 | ESESS/CSWSS | 50% | Unknown | Arkilo D et al. 2016 [56] |
10q21.3 | Chr10:68,438,375–68,506,557 | Del | 68 Kb | 1 | CTNNA3 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
13q21.2 | Chr13:60,419,603–60,647,521 | Del | 228 Kb | 1 | DIAPH3 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
5p14.1 | Chr5:28,634,980–28,837,425 | Del | 202 Kb | 2 | CDH9 and CDH6 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al., 2012 [12] |
10q21.3 | Chr10:68,251,535–68,496,866 | Del | 245 Kb | 1 | CTNNA3 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
10q21.3 | Chr10:68,550,481–68,668,009 | Del | 118 Kb | 1 | CTNNA3 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
20p12.1 | Chr20:14,491,297–14,591,133 | Del | 100 Kb | 1 | MACROD2 | 1 | ESESS/CSWSS | > 50% | Deacetylates O-acetyl-ADP ribose. | Lesca G et al. 2012 [12] |
1q44 | Chr1:245,320,978–245,410,054 | Dup | 89 Kb | 1 | KIF26B | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
3q28-q29 | Chr3:192,067,520–192,122,231 | Dup | 54 Kb | 1 | FGF12 | 1 | ESESS/CSWSS | > 50% | Growth factor activity and ion channel binding. | Lesca G et al. 2012 [12] |
3q29 | Chr3:192,212,953–192,352,465 | Dup | 139 Kb | 1 | FGF12 | 1 | ESESS/CSWSS | > 50% | Growth factor activity and ion channel binding. | Lesca G et al. 2012 [12] |
3q29 | Chr3:192,870,621–193,385,022 | Dup | 514 Kb | 5 | HRASLS, ATP13A5, ATP 13A4, OPA1 | 5 | ESESS/CSWSS | > 50% | Metabolism | Lesca G et al. 2012 [12] |
20p12.1 | Chr20:14,395,797–14,464,507 | Dup | 29 Kb | 1 | MACROD2 | 1 | LKS-ESESS/CSWSS | > 50% | Deacetylates O-acetyl-ADP ribose. | Lesca G et al. 2012 [12] |
20q13.3 | Chr20:60,015,337–60,078,775 | Del | 63 Kb | 1 | CDH4 | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
10q21.3 | Chr10:68,087,319–68,110,043 | Del | 23 Kb | 1 | CTNNA3 | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
7q35 | Chr7:146,226,258–146,254,837 | Dup | 29 Kb | 1 | CNTNAP2 | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
8p23.1 | Chr8:9,598,226–10,787,792 | Del | 1,189Kb | 8 | TNKS, MIR124–1,MSRA, PRSS55, RP1L1, SOX7, PINX1, XKR6 | 1 | ESESS/CSWSS | > 50% | Cell growth | Lesca G et al. 2012 [12] |
8q21 | Chr8:89,102,084–89,398,298 | Del | 296Kb | 1 | MMP16 | 1 | ESESS/CSWSS | > 50% | Breakdown of extracellular matrix | Lesca G et al. 2012 [12] |
1q25.3 | Chr1:183,594,532–183,820,790 | Dup | 226Kb | 3 | ARPC5, APOBEC4, RGL1 | 1 | ESESS/CSWSS | > 50% | Gene expression | Lesca G et al. 2012 [12] |
3q25 | Chr3:158,183,313–158,296,641 | Del | 113Kb | 3 | RSRC1 and MLF1 | 1 | ESESS/CSWSS | > 50% | Pre-mRNA splicing | Lesca G et al. 2012 [12] |
3q26.32–33 | Chr3:178,969,064–179,150,965 | Dup | 182Kb | 4 | KCNMB3, ZNF639, MFN1, GNB4 | 1 | ESESS/CSWSS | > 50% | Potassium and Calcium channel regulator | Lesca G et al. 2012 [12] |
Xp22.12 | ChrX:21,523,673–21,558,329 | Del | 35Kb | 1 | CNKSR2 | 1 | ESESS/CSWSS | > 50% | Synaptic proteins | Lesca G et al. 2012 [12] |
Xp22.12 | ChrX:21,328,677–21,670,497 | Del | 342 Kb | 1 | CNKSR2 | 1 | ESESS/CSWSS | Frequent and nearly continuous independent discharges. | Synaptic proteins | Aypar U et al. 2015 [47] |
Xp22.12 | ChrX:21,285,233–21,519,405 | Del | 234 Kb | 1 | CNKSR2 | 1 | ESESS/CSWSS/epilepsy aphasia | Unknown | Synaptic proteins | Houge G et al. 2012 [48] |
Xp22.12 | ChrX:20,297,696–21,471,387 | Del | 1.17 Mb | 1 | CNKSR2 | 1 | ESESS/CSWSS | 80 to 100% | Synaptic proteins | Vaags AK et al. 2014 [49] |
Xp22.12 | ChrX:20,297,696–21,471,387 | Del | 1.17 Mb | 1 | CNKSR2 | 1 | ESESS/CSWSS | > 80% | Synaptic proteins | Vaags AK et al. 2014 [49] |
Xp22.12 | ChrX:21,375,312–21,609,484 | Del | 234 Kb | 1 | CNKSR2 | 1 | ESESS/CSWSS | > 80% | Synaptic proteins | Vaags AK et al. 2014 [49] |
3q25 | Chr3:154,395,454–154,788,305 | Del | 393Kb | 1 | MME | 1 | ESESS/CSWSS | > 50% | Peptidase activity and endopeptidase activity | Lesca G et al. 2012 [12] |
5q11.2 | Chr5:58,571,292–58,745,139 | Del | 174Kb | 1 | PDE4D | 1 | ESESS/CSWSS | > 50% | Protein domain specific binding. | Lesca G et al. 2012 [12] |
6q27 | Chr6:167,355,901–167,373,534 | Del | 18Kb | 1 | RNASET2 | 1 | LKS-ESESS/CSWSS | > 50% | RNA catabolism. | Lesca G et al. 2012 [12] |
7q22 | Chr7:107,214,193–107,262,539 | Del | 48Kb | 2 | DUS4L and BCAP29 | 1 | ESESS/CSWSS | > 50% | Unknown | Lesca G et al. 2012 [12] |
8p22 | Chr8:14,553,553–14,572,370 | Del | 19Kb | 1 | SGCZ | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
8q22.3 | Chr8:102,849,359–102,868,211 | Del | 19Kb | 1 | NCALD | 1 | ESESS/CSWSS | > 50% | Calcium binding protein | Lesca G et al. 2012 [12] |
1p21.2–21.1 | Chr1:102,123,099–103,099,662 | Dup | 977Kb | 1 | OLMF3 | 1 | ESESS/CSWSS | > 50% | Unknown | Lesca G et al. 2012 [12] |
3p11.2 | Chr3:87,917,810–88,778,873 | Dup | 29 KB | 4 | HTR1F, CGGBP1, ZNF654, C3orf38 | 1 | ESESS/CSWSS | > 50% | Serotonin receptor | Lesca G et al. 2012 [12] |
3q29 | Chr3:194,088,557–194,130,145 | Dup | 217Kb | 5 | LRRC15, GP5, ATP13A3, LOC100131551 | 1 | ESESS/CSWSS | > 50% | Transportation of cations | Lesca G et al. 2012 [12] |
8q11.23 | Chr8:53,397,126–53,808,953 | Dup | 412Kb | 2 | FAM150A, RB1CC1 | 1 | LKS-ESESS/CSWSS | > 50% | Regulation of neuronal homeostasis | Lesca G et al. 2012 [12] |
9p13.2 | Chr9:37,299,058–37,451,697 | Dup | 153Kb | 3 | ZCCHC7, GRHPR, ZBTB5 | 1 | LKS-ESESS/CSWSS | > 50% | Metabolism | Lesca G et al. 2012 [12] |
10q21.1 | Chr10:56,034,426–56,089,442 | Dup | 55Kb | 1 | PCDH15 | 1 | ESESS/CSWSS | > 50% | Protocadherin | Lesca G et al. 2012 [12] |
14q21.3 | Chr14:46,524,008–47,161,263 | Dup | 637Kb | 1 | RPL10L | 1 | ESESS/CSWSS | > 50% | Unknown | Lesca G et al. 2012 [12] |
8p23.2 | Chr8:4,289,484–4,388,709 | Del | 99Kb | 1 | CSMD1 | 1 | LKS-ESESS/CSWSS | > 50% | Unknown | Lesca G et al. 2012 [12] |
11p13 | Chr11:33,179,961–33,339,337 | Dup | 159Kb | 2 | HIPK3, CSTF3 | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
11p13 | Chr11:33,249,368–33,349,707 | Dup | 100Kb | 1 | HIPK3 | 1 | LKS-ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [12] |
11p15.5 | Chr11:1,468,991–1,491,145 | Dup | 22Kb | 1 | BRSK2 | 1 | ESESS/CSWSS | > 50% | Regulates polarization of neurons | Lesca G et al. 2012 [7] |
10q21.1 | Chr10:56,626,171–56,691,361 | Del | 65Kb | 1 | PCDH15 | 1 | ESESS/CSWSS | > 50% | Protocadherin | Lesca G et al. 2012 [7] |
11q14 | Chr11:84,539,606–84,565,141 | Del | 26Kb | 1 | DLG2 | 1 | LKS-ESESS/CSWSS | > 50% | Synaptic transmission | Lesca G et al. 2012 [7] |
Xq28 | ChrX:154,396,991–154,425,684 | Del | 29Kb | 1 | AK301646 | 1 | ESESS/CSWSS | > 50% | Unknown | Lesca G et al. 2012 [7] |
Xp22.31 | ChrX:6,489,877–8,131,810 | Del | 1642 | 5 | HDHD1, STS, VCX, PNPLA4, MIR651 | 1 | ESESS/CSWSS | > 50% | Phospholipases | Lesca G et al. 2012 [7] |
2p21 | Chr2:45,410,272–45,961,582 | Dup | 551Kb | 3 | UNQ6975, SRBD1, PRKCE | 1 | LKS-ESESS/CSWSS | > 50% | Reward signaling | Lesca G et al. 2012 [7] |
Xp21.1 | ChrX:30,615,032–30,888,295 | Dup | 273Kb | 2 | GK, MAP3K7IP3 | 1 | ESESS/CSWSS | > 50% | Immune system | Lesca G et al. 2012 [12] |
3p26.3 | Chr3:1,414, 614–1,620,145 | Dup | 206Kb | 1 | CNTN6 | 1 | ESESS/CSWSS | > 50% | Cell adhesion | Lesca G et al. 2012 [7] |