TABLE 1.

Genetic findings in our cohort.

Pat.	Etiology	Surgery	ILAE class	No. ASM	Chrom. analyses	Array CGH	Whole‐exome sequencing
							Gene name	NM	DNA change	AA change	ACMG	Linked
			12/6* mo.	12/6* mo.								Phenotype
15	Perinatal media stroke	Hemispherotomy	I	3	Normal	Normal	ANKRD11	013275	c.5375_5376delCT	p.Ser1792CysFS*4	V	KGB
16	Perinatal media stroke	Hemispherotomy	I	0	Normal	Normal	TGFBR2	003242	c.1587C > T	p.Leu529*	V	LDS2
25	Intrauterine bleeding	Hemispherotomy	I	1	Normal	Normal	COL4A1	001845	c.2317G > A	p.Gly773Arg	V	BSVD1
37	FCD IIa, IIIb	Temporal lobe + amgydala‐hippectocampy	I	1	Normal	Dupl.20p12.1p11.21	MECP2	00111079	c.1208delC	p.Pro403Lfs*8	V	RTT
38	MCD, polymicrogyria	Hemispherotomy	I	1	Normal	Microdel. 20p13	NP	‐		‐	V	20p13 microdel.‐syndrome
51	Ganglioglioma	Lesionectomy	I	1	Normal	Del.15q11.2. 429 kb	Normal	‐	‐	‐	V	Chrom. 15q11.2 del.‐syndrome
52	Tubera	Lesionectomy	V	5	Normal	Normal	TSC2	000548	c.4606C > T	p.Gln1536*	V	TSC
53	FCD IIa	Lesionectomy	IV	2	Normal	Normal	ATP1A2	000702	c.2827C > T	p.Gln943*	IV	DEE98
54	MCD, polymicrogyria	Hemispherotomy	I	1	Normal	Del.2p15 280 kb	NP	‐	‐	‐	IV	Chrom. 2p15 del.‐syndrome
59	Hemimegaencephaly	Hemispherotomy	I	2	Normal	Normal	GLI3	000168	c.4430_4439delCTGAGTTACT	p.Ser1477Phefs*8	V	GCPS
61	Stroke	Anterior disconnection +callosotomy	I	2	Normal	Del.7p21.3 5.91 Mb	DEPDC5	001242896	Deletion exons 7–9	‐	V	FFEVF1
63	Tubera	Lesionectomy	I*	4*	Normal	Normal	TSC1	000368	c.2257dup	p.Ser753Lysfs*8	V	TSC
65	Perinatal media stroke	Hemispherotomy	I*	2*	Normal	Normal	COL4A1	001845	c.3307G > A	p.Gly1103Arg	V	BSVD1
66	MCD	Hemispherotomy	I*	2*	Normal	Del.10q24.32, 3.2 Mb	NP	‐	‐	‐	V	Contiguous gene syndrome
1	Rasmussen	Temporal lobe + amgydala‐hippectocampy	I	4	Normal	Normal	HUWE1	031407	c.5542A > G	p. Ser1848Gly	III	MRXST
4	MCD	Temporal lobe + amgydala‐hippectocampy	I	1	Normal	Normal	GRIN1	007327	c.2122A > C	p.Lys708Gln	III	NDHMSD
5	Perinatal media stroke	Hemispherotomy	V	2	Normal	Normal	ASH1L	018489	c.4264C > T	p.Pro1422Ser	III	MRD52
							TRIO	007118	c.3288C > T	p.Pro1096Ser		MRD44
							KIF5C	004522	c.2731A > G	p. Lys911Glu		CDCBM2
6	Schizencephaly, FCD IIb	Lesionectomy	I	2	Normal	Normal	CDON	001378964	c.2083A > G	p.Lys695Glu	III	HPE11
23	Perinatal stroke	Hemispherotomy	I	1	Normal	Normal	ATN1	001940	c.165A > G	p.Lys55Arg	III	CHEDDA
							MECP2	00111079	c.1219G > A	p.Asp407Asn		RTT
30	Defects after HSV‐encephalitis	Temporal lobe + amgydala‐hippectocampy	V	3	Normal	Normal	JAK2	004972	c.2171 T > C	p.Ile724Thr	III	Immune disorders
33	Perinatal stroke	Hemispherotomy	I	3	Normal	Normal	KCNQ2	172 107	c.2329C > T	p.pro777Ser	III	DEE7

Abbreviations: BSVD1, brain small vessel disease 1; CDCBM2, cortical dysplasia, complex, with other brain malformations 2; CHEDDA, congenital hypotonia, epilepsy developmental delay and digital anomalies; DEE, developmental epileptic encephalopathy; FFEVF1, Epilepsy, familial focal, with variable foci 1; GCPS, Greig cephalopolysyndactyly syndrome; HPE; Holoprosencephaly; LDS2, Loeys‐Dietz Syndrome 2; MRD, intellectual developmental disorder; MRXST, intellectual developmental disorder, X‐linked, syndromic, Turner Type; NDHMSD, neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NP, not performed; RTT, Rett syndrome; TSC, tuberous sclerosis complex.