Table 1. Clinical Features of Patients With Epilepsy and Intellectual Disability With 1 or More Pathogenic or Likely Pathogenic CNV.

Patient No./Sex/Age, y	Seizure Onset Age, y	Seizure Typea	Cognitive and Neuropsychiatric Features	Systemic and Dysmorphic Features	CNV	Genomic Coordinates (Genome Build)	Associated Genetic Syndrome	Interpretation
1/M/20	4	FDS	Moderate ID, autistic features	Brachycephaly, hypermetropia, deep-set eyes, flat nasal bridge, asymmetric ears, thickened helices, dilated cardiomyopathy, right sensorioneural hearing loss, and overweight	de novo 1p36.33-p36.31 del (5.64 Mb)	chr1:890 951-6 606 297 (NCBI 37/hg 19)	1p36 del syndrome (OMIM 607872)	Pathogenic
2/M/32	2	FDS	Mild ID	Retinitis pigmentosa	de novo 2p16.1-p15 dup (1.7 Mb)	chr2:60 326 674-62 025 420 (NCBI 37/hg 19)	NA	Likely pathogenic
3/F/20	1	Myoclonic absence, tonic	Moderate ID, OCD, aggressive behaviors, and hallucinations	Bicuspid aortic valve, short stature, small right fourth finger and right fourth toe phalanges, and obesity	Maternally inherited unbalanced translocation 2q37.3 del (5.62 Mb), 8p23.3 dup (2.96 Mb)	chr2:237 382 286-243 007 607 (NCBI 37/hg 19), chr8:13 938-2 981 379 (NCBI 37/hg 19)	2q37 del syndrome (brachydactyly–mental retardation syndrome) (OMIM 600430), NA	Pathogenic, VUS
4/F/26b	15	FDS->BCS	Mild ID, autistic features	Cleft palate	Maternally inherited unbalanced translocation 6p25.3-p25.1 dup (6.58 Mb), 9p24.3-p23 del (12.0 Mb)	chr6:152 630-6 736 897 (NCBI 37/hg 19), chr9:12 934-11 981 505 (NCBI 37/hg 19)	NA	Pathogenic for both
5/M/29b	17	FDS->BCS	Moderate ID, autistic features, and aggressive behaviors	Sensorineural deafness	As for sibling (patient 4) (2 CNVs)	As for sibling (patient 4) (2 CNVs)	NA	As for sibling (patient 4) (2 pathogenic CNVs)
6/M/17c	1	FS, afebrile BCS	Mild ID	Short stature, left eye astigmatism, and mild dysmorphic features	Maternally inherited 8q21.13q22.2 dup (18.9 Mb)	chr8:80 258 449-99 137 278 (NCBI 37/hg 19)	NA	Likely pathogenic
7/F/20c	3	Absence, BCS	Mild ID	High-arched palate, mild dysmorphic facies	As for sibling (patient 6)	As for sibling (patient 6)	NA	As for sibling (patient 6)
8/F/25c	0.8 (10 mo)	FS, afebrile BCS, and absence	Mild ID	Short stature, high-arched palate, and mild dysmorphic facies	As for sibling (patient 6)	As for sibling (patient 6)	NA	As for sibling (patient 6)
9/M/22	10	FDS->BCS, CSWS	Severe ID, autistic features	Inguinal hernia, slightly swollen and erythematous extremities	de novo 8p23.3p23.1 del (11.0 Mb)	chr8:229 785-11 245 018 (NCBI 37/hg 19)	NA	Likely pathogenic
10/F/18d	2	FS, FDS, and hemiclonic or tonic posture seizures	Severe ID, autistic features	Short stature, microcephaly	de novo (monozygotic twins) 10q11.22 dup (1.73 Mb)	chr10:49 314 418-51 046 099 (NCBI 37/hg 19)	NA	Likely pathogenic
11/F/18d	2	FDS, hemiclonic	Moderate ID, autistic features	Short stature, microcephaly	As for monozygotic twin (patient 10)	NA	NA	As for monozygotic twin (patient 10)
12/F/24	17	BCS, atonic	Severe ID	Prominent forehead with low hair implantation, bilateral auricular appendix	Unknown inheritance 12p13.33-13.2 dup (11.0 Mb), unknown inheritance 13q34 del (4.39 Mb)	chr12:204 618-11 221 959 (NCBI 37/hg19), chr13:110 930 206-115 105 655 (NCBI 37/hg 19)	NA	Pathogenic for both
13/F/21	11	Nocturnal tonic evolving to BCS	Moderate ID, aggressive behaviors	Overweight	de novo 15q11.2-13.1 dup (8.56 Mb)	chr15:20 063 340-29 087 002 (NCBI 37/hg 19)	15q11-q13 dup syndrome (OMIM 608636)	Pathogenic
14/M/28	12	FDS	Mild ID, autistic features	Dysmorphic facies	de novo isodicentric 15q11.1-q13.1 dup (9.05 Mb)	chr15:20 172 533-29 227 358 (NCBI 37/hg 19)	15q11-q13 dup syndrome (OMIM 608636)	Pathogenic
15/F/22	7	FS, BCS	Severe ID, autistic features	Mild brachycephaly	Unknown inheritance 15q11.2-q13.1 del (4.84 Mb)	chr15:23 676 399-28 525 218 (NCBI 37/hg 19)	Angelman syndrome (OMIM 105830)	Pathogenic
16/M/19	1.5	FS, afebrile BCS	Severe ID, autistic features	Aortic stenosis, severe scoliosis	Unknown inheritance (mother and dizygotic twin negative) 15q11.2 del (0.32 Mb)	chr15:22 762 571-23 090 364 (NCBI 37, hg 19)	15q11.2 del syndrome (OMIM 615656)	Pathogenic
17/F/35	18	Atonic, myoclonic, and FDS->BCS	Severe ID	None	Unknown inheritance 15q11.2q13.1 dup (5.87 Mb)	chr15:22 770 421-28 644 578 (NCBI 37/hg 19)	15q11-q13 dup syndrome (OMIM 608636)	Likely pathogenic
18/F/23	2	FDS, BCS	Severe ID, autistic features	Overweight	Unknown inheritance (mother negative) 15q11.2-q13.1 del (4.84 Mb), maternally inherited 2p21 dup (0.57 Mb)	chr15:23 676 399-28 577 846 (NCBI 37/hg 19), chr2:45 394 739-45 961 741 (NCBI 37/hg 19)	Angelman syndrome (OMIM 105830), NA	Pathogenic VUS
19/M/19	9	Absence, single provoked BCS	Moderate ID, autistic features	Two extra wisdom teeth	Unknown inheritance 15q13.1-q13.3 del (3.49 Mb)	chr15:29 209 620-32 706 883 (NCBI 37/hg 19)	15q13.3 del syndrome (OMIM 612001)	Pathogenic
20/F/41	4	Absence, myoclonic, and BCS	Mild ID	Hypothyroidism, slight dysarthria	Unknown inheritance 15q13.2-13.3 del (1.65 Mb)	chr15:30 888 800-32 539 670 (NCBI 37/hg 19)	15q13.3 del syndrome (OMIM 612001)	Pathogenic
21/M/22 (deceased)	0.5	Tonic, atonic, BCS, and atypical absence (LGS)	Severe ID, autistic features	None	Unknown inheritance 16p12.1 dup (0.66 Mb), unknown inheritance 16p13.2 dup (0.08 Mb)	chr16:26 576 269-27 245 599 (NCBI 37, hg 19), chr16:8 714 859-8 802 589 (NCBI 37/hg 19)	NA	VUS, likely pathogenic
22/F/19	3	Absence, BCS	Mild ID, ADHD	Hearing loss (bilateral Mondini deformity), overweight	de novo 16p13.11 del (1.28 Mb)	chr16:15 051 527-16 309 165 (NCBI 37/hg 19)	Encompasses recurrent 16p13.11 microdeletion region	Pathogenic
23/M/24	2	FS, FDS->BCS	Moderate ID, psychosis not otherwise specified	Tetralogy of Fallot, hypothyroidism, hypocalcemia, and relative hypoparathyroidism	de novo 22q11.21 del (2.55 Mb)	chr22:18 894 902-21 440 515 (NCBI 37/hg 19)	22q11.2 del syndrome (OMIM 192430/188400)	Pathogenic
24/F/21	3	FS, BCS	Moderate to severe ID, autistic features, and schizophrenia	Hypothyroidism, hypocalcemia, and relative hypoparathyroidism	de novo 22q11.21 del (2.73 Mb)	chr22:18 713 432-21 440 515 (NCBI 37/hg 19)	22q11.2 del syndrome (OMIM 192430/188400)	Pathogenic
25/F/26	1.2 (14 mo)	FDS->BCS	Mild ID, mood disorder	None	de novo Xq21.31-q22.1 del (8.05 Mb)	chrX:91 558 811-99 611 401 (NCBI 37/hg 19)	Epilepsy, female-limited epilepsy syndrome (PCDH19) (OMIM 300088)	Pathogenic
26/M/37	12	Atonic, BCS	Severe ID, autistic features	Dysmorphic facies	Maternally inherited Xq28 dup (0.64 Mb)	chrX:152 964 386-153 605 466 (NCBI 37/hg 19)	MECP2 dup syndrome (OMIM 300260)	Pathogenic
27/F/23	1.3 (16 mo)	Absence with eyelid myoclonia, BCS (Jeavons syndrome)	Mild ID, anxiety	None	de novo Xq13.3 del (0.08 Mb)	chrX:73 930 523-74 007 913 (NCBI 37/hg 19)	Mental retardation-98 (OMIM 300919) XLR encompasses KIAA2022 gene	Pathogenic

Abbreviations: ADHD, attention-deficit/hyperactivity disorder; BCS, bilateral convulsive seizures; chr, chromosome; CNV, copy number variation; CSWS, continuous spike and slow wave during slow wave sleep; del, deletion; dup, duplication; FDS, focal dyscognitive seizures; FDS->BCS, focal dyscognitive seizures evolving to bilateral convulsive seizures; FS, febrile seizures; ID, intellectual disability; LGS, Lennox-Gastaut syndrome; NA, not applicable; NCBI, National Center for Biotechnology Information; OCD, obsessive-compulsive disorder; VUS, variant of unknown significance; XLR, X-linked recessive.

^aSeizure types based on electrocardiographic data and seizure semiologic findings.

^bSiblings with similar phenotype.

^cThree siblings with similar phenotype.

^dMonozygotic twins.