The clinical manifestations of 21 newly assessed patients with epilepsy with PCDH19 pathogenic variants
| Proband no. (Sex) | Sz onset (months) | Sz types | Fever sensitivity | Seizure clusters | Status epileptic | Intellectual disability | Psychiatric problem | AEDs | Age (years) and seizure frequency at last follow-up | PCDH19 variants | Transmission | Reported/novel |
| 22 (F) | 41 | Focal | − | + | − | + | − | VPA | 4.5/seizure free for 1 year | c.1987delT p.S663PfsX13 | Father (1 sib affected) | Novel |
| 23 (F) | 27 | GTCS, Focal, MS | + | + | − | + | Aggression | OXC, TPM, LTG, VPA | 8/seizure free for 2 years and 4 months | c.1240G>A p.E414K | Asymptomatic Mother | Reported |
| 24 (F) | 13 | GTCS, Focal | + | + | − | − | − | VPA | 3/8 months between clusters | Whole PCDH19 deletion | De novo | Reported |
| 25 (M) | 5 | Focal | − | + | − | + | Aggression | OXC, LEV, VPA, TPM | 3/1–2 months between clusters | c.317T>A p.M106R (Mosaic) | De novo | Novel |
| 26 (M) | 9 | GTCS, AbS, MS | + | + | − | + | Aggression, ASD | VPA. TPM | 9/seizure free for 5 years | c.158dupT p.D54GfsX35 (Mosaic) | De novo | Novel |
| 27 (F) | 4 | GTCS, Focal, AbS | − | + | − | + | Aggression, ASD | OXC, LEV, VPA, TPM | 4/monthly clusters | c.262G>T p.D88Y | De novo | Reported |
| 28 (F) | 6 | GTCS, Focal | − | + | − | + | Aggression, ASD | VPA, OXC, LEV | 4/4 months between clusters | c.497_498insA p.Y166X | Familial (3-generation affected) | Reported |
| 29 (F) | 12 | GTCS | + | + | − | − | − | LEV | 2/6 months between clusters | c.2341delA p.I781SfsX19 (Mosaic) | De novo | Reported |
| 30 (F) | 11 | GTCS, Focal | + | + | − | + | − | VPA, LEV | 2/3 months between clusters | c.471C>G p.D157E | De novo | Novel |
| 31 (F) | 24 | GTCS, Focal | + | + | − | − | − | OXC | 1/4 months between clusters | c.2113C>T p.R705X | Father | Novel |
| 32 (F) | 18 | GTCS | + | + | − | + | − | VPA, LEV, TPM | 7/seizure free for 1 year and 6 months | c.134_135delAC p.D45GfsX43 | Father | Reported |
| 33 (F) | 10 | GTCS | + | + | − | -− | Aggression | PB, VPA, LEV | 2/6–8 months between clusters | c.64delC p.L22SfsX8 | De novo | Novel |
| 34 (F) | 21 | GTCS, Focal | + | + | − | − | Aggression | VPA, LEV, CZP | 4/seizure free for 1 year and 2 months | c.183_184insT p.R62SfsX27 | De novo | Novel |
| 35 (F) | 9 | GTCS | + | + | − | + | Aggression | TPM, LEV | 6.5/5 months between clusters | c.1019A>G p.N340S | Asymptomatic Mother | Reported |
| 36 (F) | 42 | GTCS | + | + | − | + | Aggression | VPA, LEV, TPM | 7/seizure free for 2.5 years | c.339_340insC p.V114RfsX112 | Familial (3-generation affected) | Novel |
| 37 (F) | 15 | GTCS, Focal | + | + | − | + | Aggression | LEV, CZP | 4.5/5 months between clusters | c.1178C>T p.P393L; c.1191G>C p.Q397H | Father | Reported; Novel |
| 38 (F) | 16 | GTCS, Focal | + | + | − | + | Aggression | VPA, LEV, CBZ, LTG | 11.5/seizure free for 1 year and 9 months | c.1133C>G p.S378X | De novo | Novel |
| 39 (F) | 14 | GTCS | + | + | − | + | Aggression | TPM | 2/5 months between clusters | c.1681C>T p.P561S | De novo | Reported |
| 40 (F) | 17 | GTCS, Focal | - | + | + | + | Aggression | OXC, VPA | 2/2–7 months between clusters | c.2849-1delG | Asymptomatic Mother | Novel |
| 41 (F) | 8 | GTCS, Focal | + | + | + | + | Aggression, ASD | LEV, VPA, LTG | 2.5/monthly clusters | c.1804C>T p.R602X | De novo | Reported |
| 42 (F) | 10 | Focal | + | + | − | + | − | OXC, VPA, CZP, LEV | 3/1–10 months between clusters | Whole PCDH19 deletion | De novo | Reported |
AbS, absence seizure; AED, antiepileptic drugs; ASD, autism spectrum disorder; CBZ, carbamazepine; CZP, clonazepam; GTCS, generalized tonic clonic seizure; LEV, levetiracetam; LTG, lamotrigine; MS, myoclonic seizures; OXC, oxcarbazepine; PB, phenobarbital; Sz, seizure; TPM, topiramate; VPA, sodium valproate.