Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Table 2 Copy number variations (CNVs) associated with autism spectrum disorders (ASD), epilepsy, intellectual disability and schizophrenia

Cytoband	Maximum coordinates	Phenotype	Deletion/duplication	References
1q21.1	144.9–146.2	ASD, E, ID, SCZ	Deletion/duplication	[16, 66–75]
3q29	197.1–198.9	ASD, E, ID, SCZ	Deletion/duplication	[16, 74–81]
7q11.23	71.9–74.2	ASD, E, ID, SCZ	Deletion/duplication	[69, 75, 82–89]
15q11.2–13.1	21.1–26.2	ASD, E, ID, SCZ	Duplication	[68, 69, 72, 83, 90, 91]
15q13.3	28.2–30.7	ASD, E, ID, SCZ	Deletion/duplication	[16, 68–72, 75, 83, 92–100]
16p11.2	29.4–30.1	ASD, E, ID, SCZ	Duplication	[16, 68, 74, 75, 83, 101–107]
16p11.2	29.4–30.1	ASD, E, ID	Deletion	[68, 83, 92, 101, 102, 104–110]
16p13.11	14.6–18.7	ASD, E, ID, SCZ	Deletion/duplication	[68, 69, 72, 73, 81, 90, 92, 111–114]
17q12	31.5–33.1	ASD, E, ID, SCZ	Deletion/duplication	[73, 81, 115–117]
22q11.2	16.9–20.6	ASD, E, ID, SCZ	Deletion	[16, 68, 69, 71, 72, 80, 92, 101],[118, 119]

Adapted from Betancur [15], Johnson and Shorvon [17], and Levinson et al.[120]. ASD, autism spectrum disorders; CNV, copy number variation; E, epilepsy; ID, intellectual disability; SCZ, schizophrenia.

ISSN: 2040-2392