Table 3. Clinical features of patients carrying a known pathogenic CNV.

Patient ID	Electroclinical syndrome	Development	Dysmorphic features	MCA	Neuro	MRI	CNV
NL43	CSWS	Motor and speech delay, IQ75	None	None	Normal	Arachnoidal cyst, caudal vermis hypoplasia	Dup 1q21.1
NL59	Unclassified	Mild developmental delay	None	None	Hypertonia	Normal	Del 15q11.2
NL62	BFNS	normal	None	None	Normal	Hormal	Del 15q11.2
NL3	IGE	Moderate to severe mental retardation	Macrocephaly, facial dysmorphisms	None	unknown	Not performed	Del 15q13.1>15q13.2 and Del 15q13.3
NL5	Unclassified	Speech delay, IQ 76	None	None	Normal	Normal	Del 16p11.2 de novo
NL68	Unclassified	Speech delay	None	None	Normal	Not performed	Del 16p11.2
NL17	IGE	Moderate mental retardation	Short stature, flat midface	None	Normal	Not performed	Del 16p13.11
D5	MAE	Mild cognitive disorder	None	None	Normal	Normal	Del 16p13.11 de novo
NL64	IGE	Normal psychomotor development, autism	None	None	Normal	Normal	Dup 16p13.11
NL19	IGE	Speech delay	Short palpebral fissures	Abnormal placement of anus	Normal	Normal	Del 22q11.2
NL4	Symptomatic focal epilepsy	Motor and speech delay, not classified	Microcephaly	None	Muscular hypotonia	Paraventricular cyst in right temporal lobe	Del 17p11.2

Abbreviations: BFNS, benign familial neonatal seizures; CNV, copy number variation; CSWS, continuous spike wave in slow wave sleep; IGE, idiopathic generalized epilepsy; MAE, myoclonic astatic epilepsy; MCA, multiple congenital anomaly; MRI, magnetic resonance image; Neuro, Neurological examination.