Table 1

Clinical features of the individuals with ZFHX3 variants

Sex/onset ageSz courseSz-free durationEffective
Case 1c.314C>T/p.Pro105Leu c.2282G>C/p.Gly761AlaM/childhoodsGTCS, 1–2 times/year1 yearLEVBilateral spike-slow waves with frontal dominanceNormalPE
Case 2c.2419G>A/p.Glu807Lys
F/childhoodsGTCS, 1–5 times/month1.5 yearsLTGRight frontal-centro-temporal sharp-slow wavesNormalPE
Case 3c.2671T>C/p.Phe891Leu
M/toddlerCPS, 2–3 times/year1 yearOXCSpike-slow waves in bilateral frontal-central area with right dominanceNormalPE
Case 4c.2686G>A/p.Ala896Thr
M/infantSpasms, CPS >10 times/day2 yearsLEV, LTGPoly-spike-slow wavesGDDDEE
Case 5c.4125_4127del/p.Ala1376del c.10853C>A/p.Pro3618GlnM/childhoodsGTCS, 3 times for 2 years; CPS, 2 times for 1 year5 yearsOXC, VPARight temporal spike-slow wavesNormalPE
Case 6c.5152A>C/p.Met1718Leu c.10510G>C/p.Val3504LeuM/toddlerSpasms 5–7 times/day for 4 months; then CPS 0–10 times/day9 yearsVPA, LEV, LTGRight frontal spike-slow waves with tendency of generalisationGDDDEE
Case 7c.6161C>T/p.Ala2054Val
M/infantFS, 3 times; sGTCS and CPS 2 times/week; NCSE 2–3 times for 1 year6 monthsVPA, PER, LEVLeft frontal, temporal and occipital 1.5–2 Hz spike-slow waves; diffused 1.5–2.5 Hz spike-slow wavesGDDDEE
Case 8c.10445G>T/p.Ser3482Ile c.10853C>A/p.Pro3618GlnF/childhoodsGTCS, 2 times for 2 years1.5 yearsTPMBilateral occipital–temporal sharp-slow wavesNormalPE
  • 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.