Table 1.
Clinical manifestation of 15 male patients with PCDH19 gene variants.
| Proband no. | Sex | Sz age (months) | Sz types | Fever sensitivity | Seizure clusters | Effective AEDs | Age at last follow-up(year) | Development prior to onset | Intellectual disability | Motor delay | Behavior al problems | Gene variants |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 12 | FS, GTCS, prolonged, repetitive | + | + | VPA, CLB, CZP, TPM, Stiripentol |
7 | normal | + | + | Autistic features | del PCDH19 |
| 2 | M | 9 | FS, tonic-clonic, FSsG | ? | ? | LEV, ZNS, et al. | 6 | normal | + | + | Irritability, aggression, rigidity, poor sleep, ADHD, anxiety, OCD | c.605C>A p.Ser202* |
| 3 | M | 9 | FS, focal tonic-vibratory | + | + | VPA | 4 | normal | + | ? | Compulsive and stereotyped behavior | c.918C>G p.Tyr306* |
| 4 | M | 10 | Fs, tonic, often fearful screaming at start | + | + | PHB, VPA | 3, 5 | normal | - | - | - | c.1352C>T p.Pro451Leu |
| 5 | M | 11 | Myoclonic, tonic-clonic | ? | + | PB, LEV | 8 | normal | + | + | ADHD, autism | c.2147+2 T>C |
| 6 | M | 5 | CP, secondary generaliaed. Focal with affective symptoms, secondary generalized | + | + | LEV, OXC, CLB, TPM | 10 | normal | Languages delay | + | Autism, aggression, ADHD |
c.1864G>C p.Gly622Arg |
| 7 | M | 10 | Generalized clonic | + | + | VPA | 13 | normal | - | - | Autism, mood disorder | c.840C>G p.Tyr280* |
| 8 | M | 10 | Cluster of CP seizures, secondary tonic clonic, status | + | + | LEV | 14 | normal | + | +(balance problems) | Autism spectrum disorder, anxiety | c.462C>G p.Tyr154* |
| 9 | M | 7 | Focal, febrile, GTC, tonic, CP | + | + | OXC, VPA, PHB, LEV | 2 | normal | Speech development delay | +(balance problems) | ? | c.1682C>G p.Pro561Arg |
| 10 | M | 31 | CP, febrile | + | + | OXC | 13 | Speech delay | Midly delayed speech development | - | Behavior problems resembling autism spectrum disorder, short attention span | c.799G>T p.Glu267* |
| 11 | M | 16 | Focal and geneliazed seizures | + | + | ? | 5, 5 | Speech delay from 12 months | Speech delay | - | ? | c.706C>T p.Pro236Ser |
| 12 | M | 7 | Generalized tonic seizures, | + | + | VPA, PB, OXC | 2, 3 | normal | + | + | ? | c.1508-1509inst p.Thr504HisfsTer19 |
| 13 | M | 9 | GTCs, absence seizure, myoclonic seizures | + | + | VPA, TPM | 9 | normal | + | ? | Aggression, autism spectrum disorder | c.158dupT p.D54GfsX35 |
| 14 | M | 5 | Focal | - | + | OXC, LEV, VPA, TPM | 3 | normal | + | ? | Agression | c.317T>A p.M106R |
| 15 | M | 5 | Fs, tonic, often fearful screaming at start | - | + | LEV, PB, CZP | 2, 6 | normal | + | + | ? | c.498C>G chrX-99663098 p.Y166* |
M, male; FS, focal seizure; GTCS, generalized tonic-clonic seizure; FSsG, focal seizure with secondary generalization; CP, partial complex;AED, anti-epileptic drug;VPA, valproate; CBZ, carbamazepine; CLB, clobazam; LEV, levetiracetam; LTG, lamotrigine; OXC, oxcarbazepine; TPM, topiramate; ADHD, attention deficit hyperactivity disorders.