Table 2.

Table summarized the epilepsy‐related variants reported in our cohort

Patient No.	Source of DNA	Gene	Variant	Amino acid change	Population frequency in ExAC	Report(s) in literature	Inheritance	ACMG Classificationb, 17	Increased risk of SUDEP?
1	Blood	SCN8A	c.2548C>G	p.(R850G)	0	Novel	de novo	Pathogenic	Yes39
2	Buccal	DEPDC5	c.4427‐2A>G	/	0	Novel	Father	Pathogenic	Yes40
3	Blood	MECP2	c.473C>T	p.(T158M)	0	Reported40	de novo	Likely pathogenic	No
4	Blood	CDKL5	c.2277‐2A>C (Mosaic with ~30% variant in blood)	/	0	Novel	Not determined	Likely pathogenic	No
5	Blood	CHD2	c.1618G>A	p.(V540I)	0	Novel	Not determined	Likely pathogenic	No
6	Blood	SCN1A	c.4507G>A	p.(E1503K)	0	Reported41	de novo	Likely pathogenic	Yes40
		SCN5A a	c.1066G>A	p.(D356N)	0	Reported26	Father	Likely pathogenic	Yes29
7	Blood	KCNT1	c.1038C>A	p.(F346L)	0	Novel	Father (mosaic carrier)	VUS	Yes30, 42

^aFinding related to Brugada syndrome.

^bDetailed classification was listed in Table S3.