Table 1.

Summary of cases with mutations in SETD1A and their mutation frequency in different databases.

Gender	Gene variant	Mutation frequency					Inheritance	Onset	Seizures type	EEG	MRI (Brain)	Additional features	Age at follow-up	Development follow-up
		dbSNP	1000 Genome	ExAC	gnomAD
					Total	East Asian
Female	SETD1A	0	0	0	0	0	Inherited	2d	Clonic and tonic	Some sharp waves and sharp-slow-waves	Normal	No	1y3m	Normal
	Exon 10
	c.2737C > T
	p.R913C
Female	SETD1A	0	0	0	0	0	De novo	2y	Clonic and tonic	Bilateral spike waves and Sharp-and-slow -waves	Normal	No	2y6m	Normal
	Exon 6													DQ = 110
	c.806A > G													MI = 107
	p.Q269R
Male	SETD1A	0	0	0	0.000007896	0	De novo	9 m	Clonic and tonic	Multiple spike-and-slow-waves, slow-spike-and-waves, especially in sleeping	Cerebral dysplasia	No	1y9m	Developmental delay
	Exon 14
	c.4105G > A
	p.G1369R
Male	SETD1A	0	0	0.0001034	0.00003303	0	De novo	1d	Clonic and tonic	Bilateral sharp waves and spike-and-waves	subdural hemorrhage	Lung dysplasia, sepsis, patent foramen ovale, bilateral hydrocele of testis	NA	NA
	Exon 14
	c.4175G > A
	p.R1392H