Table 4 Summary of pathogenic potential, functional alteration, and genotype of genes in epileptic encephalopathies

	Pathogenic	Possibly pathogenic	To be confirmed
GOF (missense)	*Ion channel*
	KCNA2, KCNT1; GRIN2A, GRIN2B	SCN2A, SCN8A; GRIN2D	KCNQ2; HCN1
	*Non-ion channel*
	FGF12
LOF or destructive	*Ion channel*
	SCN1A; KCNA2^a, KCNB1, KCNQ2; GABRG2^a; GRIN1^a	SCN2A; GABRA1, GABRB1^a, GABRB2^a, GABRB3; GRIN2A^a; HCN1^a	SCN8A; GRIN2B
	*Non-ion channel*
	CHD2, DNM1^a, GNAO1, SLC6A1, SPTAN1, STXBP1	ANKRD11, DNM1L^a, SLC2A1, SYNGAP1	DYRK1A, HNRNPU, KMT2A, NUS1, TRIM8, ZEB2
	*X-linked*
	CASK, CDKL5, CLCN4^a, DCX, IQSEC2, PCDH19^b, SLC35A2, WDR45	MECP2, SLC9A6	SMC1A
UD		ALG13, ATP1A2, CACNA1A, DYNC1H1, EEF1A2, FOXG1, HECW2, KCNA1, NACC1, NEDD4L, NTRK2, PIGA, YWHAG	BCL11A, CLTC, COL4A1, DHDDS, FASN, GABBR2, MEF2C, NAA10, NR2F1, PIK3AP1, RANGAP1, RYR3, SIK1, SLC1A2, SNAP25, TBL1XR1

Underline, gene with diverse functional alterations
GOF gain of function, LOF loss of function, UD functional alteration not determined missense
^aGenes with variants of only missense that revealed a functional alteration of LOF
^bSpecial mechanism other than LOF and GOF

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