Table 1

Individuals with rolandic epilepsy (RE) and recurrent risk factor CNVs

Case ID (gender)CytobandCNV coordinates (hg19/B37) Size (kb)CNV type (inheritance)UCSC gene contentCase phenotypeFamily phenotypeHotspot/disease association
S218 (F)1p36.33chr1:0–10656911065Dup OR4F5, OR4F29 SAMD11, NOC2L, KLHL17, PLEKHN1 (+6 more) RE onset 9 yearsCousin FS; mother; migraineHotspot/KLHL17 candidate gene. Seen in AE. Del causes infantile spasms.
SFR (M)1q21.1chr1:14595197–145926106530Dup HFE2, TXNIP, POLR3GL, (+18 more) RE onset 9 yearsNoneHotspot. ID, DD, epilepsy, dysmorphic features.
JRS (M)1q21.1q21.2chr1:145926106–1478267891900Dup LOC100288142, NBPF10, PDZK1P1, NBPF11, (+17 more) RE onset 5 years, freq seizures, ESES, multiple RxMother; migraineAs above.
1050-301 (F)2q21.1chr2:131598135–131772974174Del (Pat) ARHGEF4 RE onset 9 years, frequent seizuresMaternal grandmother and uncle; MIG, paternal uncle; RD and stutter, aunt; migraine2q21.1 locus, ID, epilepsy, LI and ADHD.
RK044 (M)7q11.21chr7:66048230–66130669154Del KCTD7 RE onset 8yUnknownProgressive myoclonic epilepsy.
SMJ (F)7q21.11chr7:82045382–82148862103Dup CACNA2D1 RE onset 10 years, headacheCousin; grand-mal seizuresWest syndrome, epilepsy and ID.
RK011 (F)16p13.2chr16:9964443–10080978116Del GRIN2A RE onset 3 years, freq seizures, multiple Rx, RDUnknownGenetic focal epilepsies with rolandic spikes.
1012-301 (F)16p13.11chr16:14952508–163333131380Del (de novo) NOMO1, NPIP, NTAN1, PDXDC1, RRN3,
(+11 more)
RE onset 3 yearsSister; RD16p13.11 hotspot. genetic generalised epilepsies, diverse epilepsies.
7083-301 (F)17p13.1chr17:8219833–824356523Dup (de novo) ARHGEF15, ODF4 RE onset 8 years, RDSister; abnormal EEG, RD, SPC; mother; partial epilepsy, migraine. ARHGEF15: epileptic encephalopathy, ID, SD and LI.
S201 (F)Xp22.31chrX:6439256–81380351698Dup VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 RE, onset 9 yearsNoneHotspot ID, epilepsy inc. RE, AE, ASD.
S241 (F)Xp22.31chrX:6439256–81380351698Dup VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 RE, onset 7 yearsCousin; probable IFEAs above.
1052-301 (F)Xp22.31chrX:6449682–81380351688Del (de novo) VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 RE onset 6 years, SDFather; depressionAs above.
S149
(F)
Xp22.31chrX:6449682–81380351688Dup VCX3A, HDHD1, STS, VCX, PNPLA4, VCX2 RE onset 5 yearsFH of FSAs above.
1039-301 (M)Xp22.31chrX:7497771–8138035640Dup (Mat) VCX, PNPLA4, VCX2 RE onset 7 years, SD, migraineFather; RDAs 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.