Table 5.

Clinical features in OS, WS, LGS, Doose, GLUT1-DS, Rett, TSC, UEE and UE patients

Case code	Gender/age	Diagosis	Age of onset	Seizure types	EEG	Brain MRI/CT	Developmental delay	Gene	cDNA change	Protein change	Parental Origin	ACMG pathogenicity
55	M/54d	OS	1d	FoS, Tonic spasms	BS, FSW	Normal	Yes	KCNQ2	c.794C > T	p.A265V	De novo	P
93	M/40d	OS	3d	Tonic spasms	BS	Normal	Yes	SCN2A	c.4712T > C	p.I1571T	De novo	LP
90	M/2y11m	OS-WS	17d	Tonic spasms, Spa.	BS, Hypsarrhy.	Normal	Yes	STXBP1	c.364C > T	p.R122X	Unknown	P
52	F/1y8m	WS	2m	Spa.	Multi. FD, Hypsarrhy.	Cerebral dysplasia	Yes	ADSL	c.253C > T	p.R85X	Maternal	LP
								ADSL	c.71C > T	p.P24L	Paternal	UC
89	F/1y11m	WS	19d	FoS, Spa.	Multi. FD, Hypsarrhy.	Subdural hemorrhage	Yes	KCNT1	c.862G > A	p.G288S	De novo	P
104	F/2y10m	WS	3m7d	Spa.	Hypsarrhy., Multi.FD	Normal	Yes	CDKL5	c.265delT	p.F89Lfs*24	De novo	P
151	F/9m	WS	3m	Spa.	Hypsarrhy., Multi. FD	Enlargement of the subarachnoid space	Yes	STXBP1	c.748C > T	p.Q250X	De novo	P
29	M/5y6m	Doose	1y3m	Myo-At., Myo, aAb	Abnormal background theta, GSW, GPSW	Normal	No	SYNGAP1	c.274_277del	p.G92fs	De novo	P
164	F/6y	GLUT1-DS	2y4m	GTCS	FSW, Multi. FD	Nonspecific (Hair loss leads to bald)	No	SLC2A1	c.296T > G	p.M99R	De novo	LP
30	F/4y4m	Rett	3y2m	Fos (I), FBTC	Multi. FD	Normal	Yes	MECP2	c.799C > T	p.R267X	De novo	P
32	M/8y	TSC	1y6m	FoS (I), FBTC	Multi. FD	Multi nodules	No	TSC2	c.2666C > T	p.A889V	Paternal	LP
94	F/9m	TSC (WS)	3m	Spa.	Multi. FD, Hypsarrhy.	Multi nodules	Yes	TSC2	c.3412C > T	p.R1138X	De novo	P
								TSC2	c.3598C > T	p.R1200W	De novo	P
98	M/3y	TSC (WS)	4m	Spa., aAb	Multi. FD, Hypsarrhy.	Nonspecific	Yes	TSC2	c.5079C > G	p.Y1693X	Paternal	LP
								TSC2	c.5077delT	p.Y1693fs	Paternal	LP
7	M/2y	UEE (EIEE13)	6m	FoS (I), FBTC	Multi. FD	Enlargement of the subarachnoid space	Yes	SCN8A	c.4324G > A	p.E1442K	Paternal	LP
								IQSEC2	c.4246_4247insG	p.S1416fs	De novo	P
63	M/4y	UEE (EIEE42)	5m	FoS, GTCS	Multi. FD	Normal	Yes	CACNA1A	c.301G > C	p.E101Q	De novo	P
66	M/1y9m	UEE (EIEE13)	4m	FBTC, FoS	Multi. FD	Enlargement of the subarachnoid space	Yes	SCN8A	c.5492G > A	p.R1831Q	De novo	P
69	F/2y1m	UEE (EIEE9)	1y3m	FBTC, C, T	Multi. FD	Normal	Yes	PCDH19	c.2849-1G > −	splicing	Unknown	LP
157	F/2y	UEE (EIEE43)	2m	C, FoS (I)	FSW	Normal	Yes	GABRB3	c.761C > T	p.S254F	De novo	P
160	M/6y	UEE (EIEE19)	6m	FoS (I), GTCS	FSW	Normal	Yes	GABRA1	c.641G > A	p.R214H	De novo	P
54	F/7y	UEE (EEOC)	4y2m	SE, GTCS, FoS (I)	Mult. FD	Normal	Yes	CHD2	c.3640G > T	p.G1214X	De novo	P
40	F/2y11m	UE	4m	FoS	FSW	Normal	No	VRK2	c.C256 + 1G > A	splicing	Unknown	LP
44	F/5y6m	UE	4y	FoS (automatisms, emotional)	Multi. FD	Nodules in internal side of left anterior limb of internal capsule; caput of caudate nucleus or heterotopic gray matter	Yes	ATP1A2	c.1097G > T	p.G366V	De novo	LP
68	M/6y	UE	4y	FoS (A)	FSW	Normal	No	TSC1	c.2768_2769insC	p.L924Ffs*26	De novo	P
79	M/3y	UE	1y2m	FoS (I), FBTC	Multi. FD	Normal	Yes	SLC9A6	c.582_595del	p.Y194fs	De novo	P

Abbreviations: M male, F female, m month, y year, P pathogenic, LP likely pathogenic, UC uncertain, OS Ohtahara syndrome, OS-WS Ohtahara syndrome evolves to West syndrome, WS West syndrome, Doose Doose syndrome, GLUT1-DS glucose transporter type 1 deficiency syndrome, Rett Rett syndrome, TSC tuberous sclerosis complex, UEE unclassified epileptic encephalopathy, UE unclassified refractory epilepsy, EEIE early-infantile epileptic encephalopathies, EEOC childhood-onset epileptic encephalopathy, Spa. Spasms, FoS focal seizures, FoS (I) focal seizures (impaired awareness), FoS (A) focal seizures (aware), FBTC focal to bilateral tonic-clonic, T tonic, C clonic, Myo myoclonic, aAb atypical absence, At. atonic, GTCS generalized tonic-clonic seizures, SE status epilepticus, BS burst suppression, Hypsarrhy. hypsarrhythmia, Multi. FD multifocal discharges, FSW focal spike-wave, GSW generalized spike-wave, GPSW generalized polyspike-wave