Individuals with rolandic epilepsy (RE) and recurrent risk factor CNVs
| Case ID (gender) | Cytoband | CNV coordinates (hg19/B37) | Size (kb) | CNV type (inheritance) | UCSC gene content | Case phenotype | Family phenotype | Hotspot/disease association |
| S218 (F) | 1p36.33 | chr1:0–1065691 | 1065 | Dup | OR4F5, OR4F29 SAMD11, NOC2L, KLHL17, PLEKHN1 (+6 more) | RE onset 9 years | Cousin FS; mother; migraine | Hotspot/KLHL17 candidate gene. Seen in AE. Del causes infantile spasms. |
| SFR (M) | 1q21.1 | chr1:14595197–145926106 | 530 | Dup | HFE2, TXNIP, POLR3GL, (+18 more) | RE onset 9 years | None | Hotspot. ID, DD, epilepsy, dysmorphic features. |
| JRS (M) | 1q21.1q21.2 | chr1:145926106–147826789 | 1900 | Dup | LOC100288142, NBPF10, PDZK1P1, NBPF11, (+17 more) | RE onset 5 years, freq seizures, ESES, multiple Rx | Mother; migraine | As above. |
| 1050-301 (F) | 2q21.1 | chr2:131598135–131772974 | 174 | Del (Pat) | ARHGEF4 | RE onset 9 years, frequent seizures | Maternal grandmother and uncle; MIG, paternal uncle; RD and stutter, aunt; migraine | 2q21.1 locus, ID, epilepsy, LI and ADHD. |
| RK044 (M) | 7q11.21 | chr7:66048230–66130669 | 154 | Del | KCTD7 | RE onset 8y | Unknown | Progressive myoclonic epilepsy. |
| SMJ (F) | 7q21.11 | chr7:82045382–82148862 | 103 | Dup | CACNA2D1 | RE onset 10 years, headache | Cousin; grand-mal seizures | West syndrome, epilepsy and ID. |
| RK011 (F) | 16p13.2 | chr16:9964443–10080978 | 116 | Del | GRIN2A | RE onset 3 years, freq seizures, multiple Rx, RD | Unknown | Genetic focal epilepsies with rolandic spikes. |
| 1012-301 (F) | 16p13.11 | chr16:14952508–16333313 | 1380 | Del (de novo) | NOMO1, NPIP, NTAN1, PDXDC1, RRN3, (+11 more) | RE onset 3 years | Sister; RD | 16p13.11 hotspot. genetic generalised epilepsies, diverse epilepsies. |
| 7083-301 (F) | 17p13.1 | chr17:8219833–8243565 | 23 | Dup (de novo) | ARHGEF15, ODF4 | RE onset 8 years, RD | Sister; abnormal EEG, RD, SPC; mother; partial epilepsy, migraine. | ARHGEF15: epileptic encephalopathy, ID, SD and LI. |
| S201 (F) | Xp22.31 | chrX:6439256–8138035 | 1698 | Dup | VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 | RE, onset 9 years | None | Hotspot ID, epilepsy inc. RE, AE, ASD. |
| S241 (F) | Xp22.31 | chrX:6439256–8138035 | 1698 | Dup | VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 | RE, onset 7 years | Cousin; probable IFE | As above. |
| 1052-301 (F) | Xp22.31 | chrX:6449682–8138035 | 1688 | Del (de novo) | VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 | RE onset 6 years, SD | Father; depression | As above. |
| S149 (F) | Xp22.31 | chrX:6449682–8138035 | 1688 | Dup | VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 | RE onset 5 years | FH of FS | As above. |
| 1039-301 (M) | Xp22.31 | chrX:7497771–8138035 | 640 | Dup (Mat) | VCX, PNPLA4, VCX2 | RE onset 7 years, SD, migraine | Father; RD | As above. |
Genetic and clinical characteristics of 14 patients with RE and their families who carried a CNV classed as pathogenic.
References can be found in online supplementary table S3.
AE, absence epilepsy; ASD, autism spectrum disorder, DD, developmental delay; ESES, electrical status epilepticus in sleep; F, female; FH, family history; FS, febrile seizures; ID, intellectual disability; IFE, idiopathic focal epilepsy; LI, language impairment; M, male; RD, reading difficulty or dyslexia; Rx, pharmacological treatments; SD, speech disorder; UCSC, University of California, Santa Cruz.