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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]
  1. ESESS; electrical status epilepticus during slow-wave sleep, CSWSS; continuous spike-wave of slow sleep, Del; deletion, Dup; duplication