Table 1.

Clinical features of SETD1A patients with seizures.

Gender	Variant	Inheritance	Onset	Seizure type	EEG	MRI	ASM	Age at follow-up	Development
F	Exon 10 c.2737C>T p.R913C	Inheriteda	2 d	Ct	Some sharp waves and sharp-slow-waves	Normal	PB	1 y and 3 m	Normal
F	Exon 6 c.806A>G p.Q269R	De novo	2 y	Ct	Bilateral spike waves and sharp-and-slow-waves	Normal	NA	2 y and 6 m	Normal DQ = 110 MI = 107
M	Exon 14 c.4105G>A p.G1369R	De novo	9 m	Ct	Multiple spike-and-slow-waves and slow-spike-and-waves, especially when sleeping	Cerebral dysplasia	NA	1 y and 9 m	Developmental delay
M	Exon 14 c.4175G>A p.R1392H	De novo	1 d	Ct	Bilateral sharp waves and spike-and-waves	Subdural hemorrhage	NA	NA	NA
F	Exon 8 c.2120_2121insA (p.Gly708Argfs*117)	De novo	3 y	GTCS	Mild background slowing	Bilateral white matter dysplasia and ventriculomegaly	LEVb	7 y and 6 m	Developmental delay WISC: 65
F	Exon 12 c.3005–3,006 del (p.Glu1002Glyfs*20)	De novo	6 m	ES	Hypsarrhythmia	Normal	ACTH,VPA,Vit B6	9 m	Developmental delay

PB, phenobarbital; LEV, levetiracetam; WISC, Wechsler Intelligence Scale for Children; VPA, Valproic acid; Ct, Clonic and tonic; GTCS, Generalized tonic–clonic; ES, Epileptic spasms; NA, no data; data were not available for the other 6 patients.

^aFather, grandfather, and grandmother had convulsions, but the gene was not detected.

^bSeizure-free by LEV but relapse 4 years later.