Table 2. De novo variants identified in 11 patients.

ID	Gender	Electroclinical syndrome	Age of onset	Neurocognitive phenotype	Dysmorphic features, MCA	MRI	Genetic findings
D5	Male	Myoclonic astatic epilepsy	3 Years	Mild ID	None	Normal	16p13.11 deletion
D10	Male	Focal epilepsy, unclassified	5 Months	Severe ID	Macrocephaly	Hydrocephalus	6q24.2q26 deletion
D34	Female	Focal epilepsy, unclassified	24 Years	Profound ID	Hyperteleorism, ptosis, flat nasal bridge, low set and small ears	Normal	3pter3p25.2 deletion
NL4	Male	Focal epilepsy, unclassified	Unknown	Motor and speech delay, not classified	Microcephaly	Paraventricular cyst right temporal lobe	17p11.2 deletion
NL5	Female	Epilepsy, unclassified	5 Years	Borderline ID	None	normal	16p11.2 deletion
NL14	Female	Idiopathic generalized epilepsy	3 Years	Unknown	Microcephaly, flat face with full cheeks, clinodactyly of fifth finger bilaterally	Arachnoidal cyst left temporal side	5p11.2 deletion
NL31	Female	Focal epilepsy, unclassified	6 Months	ID NOS	None	Normal	17p13.1 deletion
NL32	Male	Epilepsy, unclassified	13 Years	ID NOS	None	Progressive loss of white and gray matter	2q24.1 deletion
NL37	Male	Lennox-Gastaut syndrome	6 Years	ID NOS	Microcephaly, epicanthic folds, almond-shaped palpebral fissures, strabismus, micrognathia	Atrophic corpus callosum, delayed myelinization	Xp22 deletiona Xq28 duplicationa 6p25 deletion pat
NL58	Male	Focal epilepsy, unclassified	5 Years	Borderline ID	None	Normal	5q35.2 duplicationb17p13.1 deletion mat
NL74	Male	Epilepsy, unclassified	9 Months	ID NOS	None	Nonspecific white matter abnormalities	13q13.3 deletion

Abbreviations: MCA, multiple congenital anomaly; MRI, magnetic resonance image; ID NOS, intellectual disorder not otherwise specified.

^aThe mother of the proband carries an X-chromosomal pericentric inversion. The rearrangements are de novo, but due to the rearrangement in the mother.

^bDe novo duplication considered as likely pathogenic according to Miller et al.¹⁰