Table 1.

Likely pathogenic and pathogenic somatic variants identified in patients with epileptic brain lesions

Patient	Lesion	N	Somatic variant	AAF [%]	Associated disease	ACMG classification	Reference
Patient 3	FCDIIA	1	NPRL3 NM_001077350.2:c.682_683dup p.(S228Rfs*16)	20/443 [4.5]	–	LP	–
Patient 5	FCDIIB	1	MTOR NM_004958.3:c.5930C>A p.(T1977K)	8/240 [3.3]	FCD/HME	P	[42, 45]
Patient 6	DNT	1	FGFR1 NM_023110.2:c.1966A>G p.(K656E)	125/334 [37.4]	DNT	LP	[10]
Patient 7	DNT	1	FGFR1 NM_023110.2:c.1966_1968delinsGAC p.(K656D)	64/212 [30.2]	PA	LP	[46]
Patient 8	DNT	1	DNMT3A NM_175629.2:c.2141C>G p.(S714C)	51/449 [11.4]	AML	LP	[47]
Patient 9–13	GG	5	BRAF NM_004333.5:c.1799T>A p.(V600E)	16/199–474/1337 [8.04–35.5]	PXA/GG/DNT/DIA/DIG	P	[48]
Patient 14	GG	1	BRAF NM_004333.5:c.1518_1526dup	26/318 [8.2]	–	LP	–
Patient 15	HS+GG	1	KRAS NM_004985.5:c.40 G>A p.(V14I)	28/1048 [2.7]	NS/melanoma/carcinoma/neoplasm	LP	[49–52]
Patient 2	HS	1	NF1 NM_000267.3:c.2674del p.(S892Afs*10)	25/569 [4.4]	–	LP	–

N number of patients carrying the variant, AAF Somatic alternate allele fraction, LP likely pathogenic, P pathogenic according to latest American College of Medical Genetics and Genomics (ACMG) guidelines, FCDII focal cortical dysplasia type II, HME hemimegalencephaly, DNT dysembryoplastic neuroepithelial tumor, NF1 neurofibromatosis type I, PA pilocytic astrocytoma, AML acute myeloid leukemia, PXA pleomorphic xanthoastrocytoma, GG ganglioglioma, DIA desmoplastic infantile astrocytoma, DIG desmoplastic infantile ganglioglioma, NS Noonan syndrome