Table 1. Patients' clinical data, subdivided in two subcohorts (A and B), including sex, age, AEDs administered, EEG, MRI results, and family history.

Case n-subcohort	Sex	Age (years)	Diagnosis	Clinical features	AEDsa	EEG	MRI	Family history
1-A	F	17	Lennox–Gastaut syndrome in a subject with double cortex	Severe mental retardation. Tonic, atonic, and myoclonic seizures during sleep and awake	VPA+CLB+ETS	Lennox like	Double cortex	Questionable parental consanguinity
2-A	F	14	Pyridoxine-dependent epilepsy	Neonatal seizures and epileptic status at 6 months of age responsive to pyridoxine. Normal IQ	LTG+B6	Currently normal	Normal	Negative
3-A	M	14	Pyridoxine-dependent epilepsy	Intractable seizures during the first year and epileptic status pyridoxine responsive. Normal IQ	B6	Currently normal	Normal	Progressive motor and language disability (mother's paternal uncle)
4-A	M	4	Dravet syndrome	Typical evolution of Dravet syndrome. Actually IQ 46	VPA+TPM+CLB+STP	Typical of Dravet syndrome	Normal	Negative
5-A	F	0.8	Benign familial neonatal seizures	Intractable tonic-clonic seizures during the first 25 days of life spontaneously remised	PB+TPM+MDL+Rivotril	Normal	Normal	Father with benign neonatal seizures
6-A	M	7	Epileptic encephalopathy and pervasive developmental disorder	Neonatal seizures, followed by focal seizures. Severe mental retardation. Pervasive developmental disorder	VPA	Sharp and sharp-wave on central and frontal regions	Normal	Negative
7-A	F	7	Febrile seizures plus	Febrile and afebrile GTC. Normal IQ	LEV	Large amplitude and diffuse sharp-wave abnormalities	Normal	Migraine in the maternal line
8-B(i)	M	6	Myoclonic epilepsy	Epileptic negative myoclonus. Normal IQ	VPA+LTG	Spike-wave discharges	Not performed	Brother of 8-B(ii)
8-B(ii)	M	14	Generalized epilepsy	One myoclonic seizure. Normal IQ.	LTG	Spike-slow wave discharges	Normal	Brother of 8-B(i)
9-B	F	3	Febrile seizures	Numerous febrile seizures during the first year. Normal psychomotor development (GQ=116)	VPA	Normal	Not performed	Family history of febrile seizures
10-B	M	6	Benign epilepsy of childhood with centrotemporal spikes (BECTS)	Few typical rolandic seizures. Borderline learning difficulties	None	Atypical BECTS	Normal	Family history of BECTS and mild intellectual disabilities
11-B	M	8	Myoclonic epilepsy	Cognitive impairment from 4 years (GQ 90.4; IQ 53)	VPA+LTG	Currently normal	Not performed	Mother, maternal uncle, and grandfather with generalized epilepsy
12-B	M	16	Febrile seizures plus	Febrile seizures from 2 to 6 years. Normal IQ	VPA, suspended in 2006	Currently normal	Not performed	Family history of febrile afebrile seizures
13-B	F	5	Febrile seizures	Febrile seizures, normal IQ	None	Normal	Not performed	Family history of febrile seizures (father) and FS and absences (mother)
14-B	M	12	Febrile seizures plus	Febbrile seizures, then afebrile GTC. Normal IQ	VPA	Generalized abnormalities	Hippocampal asymmetry, incomplete rotation of hippocampal structure	Family history febrile and afebrile seizures (father and sister)
15-B	M	9	Lennox–Gastaut syndrome	Severe cognitive impairment, myoclonic and tonic seizures or GTC Mental retardation	VPA+ETS+NTZ+HC+PB	Spikes and polyspikes tonic activity, slow waves during sleep and awake	Normal	Not reported
16-B	M	3	Epileptic encephalopathy	GTC and partial seizures. Severe cognitive impairment	LTG+VPA+HC	Generalized sharps and sharp waves. Poor organization.	Normal	Consanguineous parents (first cousins)
17-B	M	4	Focal epilepsy	Febrile seizures, status epilepticus. Normal psychomotor development. QS 90 at 2 years	VPA+TPM	Poor organization, slow, not epileptic abnormalities	Mesial temporal sclerosis and temporal lobe dysplasia left	Not reported
18-B	M	4	Epileptic encephalopathy	Neonatal seizures, spasms, and hypsarrhythmia Severe cognitive impairment, hypotonia, strabismus, and motor stereotypies	VPA+LEV+NTZ	Poor organization, slow, slow waves, and polispikes during sleep	Cerebral atrophy	Not reported
19-B	M	5	Epileptic encephalopathy and hypothyroidism	Severe cognitive impairment, spasms in flexion, and partial seizures, Hypothyroidism	VPA+TPM+LTG	Poor organization. Multifocal abnormalities	Modest diffuse cerebral atrophy	Not reported

Abbreviations: AEDs, antiepileptic drugs; EEG, electroencephalogram; F, female; M, male; MRI, magnetic resonance imaging.

^aAEDs abbreviations: B6, pyridoxine; CBZ, carbamazepine; CLB, clobazam; ETS, ethosuximide; HC, hydrocortisone; LEV, levetiracetam; LTG, lamotrigine; MDL, midazolam; NTZ, nitrazepam; PB, phenobarbital; STP, stiripentol; TPM, topiramate; VPA, valproic acid.