Table 1

Clinical features of the individuals with ZFHX3 variants

Case	Variants (NM_006885.4)	Sex/onset age	Sz course	Sz-free duration	Effective AEDs	EEG	Development	Diagnosis
Case 1	c.314C>T/p.Pro105Leu c.2282G>C/p.Gly761Ala	M/childhood	sGTCS, 1–2 times/year	1 year	LEV	Bilateral spike-slow waves with frontal dominance	Normal	PE
Case 2	c.2419G>A/p.Glu807Lys c.10853C>A/p.Pro3618Gln	F/childhood	sGTCS, 1–5 times/month	1.5 years	LTG	Right frontal-centro-temporal sharp-slow waves	Normal	PE
Case 3	c.2671T>C/p.Phe891Leu c.9583_9584insT/p.Pro3195LeufsTer44	M/toddler	CPS, 2–3 times/year	1 year	OXC	Spike-slow waves in bilateral frontal-central area with right dominance	Normal	PE
Case 4	c.2686G>A/p.Ala896Thr c.10439C>T/p.Ala3480Val	M/infant	Spasms, CPS >10 times/day	2 years	LEV, LTG	Poly-spike-slow waves	GDD	DEE
Case 5	c.4125_4127del/p.Ala1376del c.10853C>A/p.Pro3618Gln	M/childhood	sGTCS, 3 times for 2 years; CPS, 2 times for 1 year	5 years	OXC, VPA	Right temporal spike-slow waves	Normal	PE
Case 6	c.5152A>C/p.Met1718Leu c.10510G>C/p.Val3504Leu	M/toddler	Spasms 5–7 times/day for 4 months; then CPS 0–10 times/day	9 years	VPA, LEV, LTG	Right frontal spike-slow waves with tendency of generalisation	GDD	DEE
Case 7	c.6161C>T/p.Ala2054Val c.10445G>T/p.Ser3482Ile	M/infant	FS, 3 times; sGTCS and CPS 2 times/week; NCSE 2–3 times for 1 year	6 months	VPA, PER, LEV	Left frontal, temporal and occipital 1.5–2 Hz spike-slow waves; diffused 1.5–2.5 Hz spike-slow waves	GDD	DEE
Case 8	c.10445G>T/p.Ser3482Ile c.10853C>A/p.Pro3618Gln	F/childhood	sGTCS, 2 times for 2 years	1.5 years	TPM	Bilateral occipital–temporal sharp-slow waves	Normal	PE

AED, antiepileptic drug; CPS, complex partial seizures; DEE, developmental epileptic encephalopathy; FS, febrile seizures; GDD, global developmental delay; LEV, levetiracetam; LTG, lamotrigine; NCSE, non-convulsive status epilepticus; OXC, oxcarbazepine; PE, partial epilepsy; PER, perampanel; sGTCS, secondary generalised tonic–clonic seizures; Sz, seizures; TPM, topamax; VPA, valproate.