Table 1.

Clinical features of the nine patients with the recurrent de novo p.Glu590Lys variant of CUX2

Patient n°	Sex	Age at study (years)	Age at first seizures (months)	Type(s) of seizures at onset	Evolution of seizures
Patient 1 5	M	8	6	Focal spasms	Seizure free
Patient 2	M	19	7	Myoclonic seizures and right occipital seizures with apnea	30 months: 1 febrile tonic seizure. 3 years: 2 focal seizures. 4 years:Myoclonic seizures. 7 years: GTCS and myoclonic seizures
Patient 3	M	21	6	Atypical absences with myoclonus	Atypical absences, tonic seizures with myoclonic component, atonic seizures, GTCS
Patient 4	F	9	6	Myoclonic	Myoclonic seizures, tonic seizures, GTCS
Patient 5	F	14	12	Absence seizures	Myoclonic seizures. NCSE
Patient 6 6	M	12	2	Myoclonic seizures	Atonic seizures, myoclonic and absence seizures with eye fluttering, GTCS
Patient 7	M	16	5	Myoclonic seizures	Myoclonic seizures, especially in the mornings, myoclonic drop attacks
Patient 8	M	0.5	2	GTCS, atypical absences with apnea and myoclonus, right hemiclonic seizures	GTCS, Focal impaired awareness seizures, 1 febrile seizure after vaccination
Patient 9 26	M	14	108 (9 years)	Absence seizures	Seizure free from age 12

F = female; GTCS = generalized tonic-clonic seizures; M = male; NCSE = Nonconvulsive status epilepticus.