Table 1.
Summary of phenotypic and genetic data of our case and of total reported affected males
| Our case | 35 cases including our one | |
|---|---|---|
| Development before seizures onset | Normal | Usually normal |
| Age at seizures onset, months | 3 | Within 3 and 96 (median 8) |
| Seizures types | Tonic | Focal 23, GTCS 11, tonic 10, ms 5, clonic 2, abs 2, atypical abs 1, atonic 1 |
| Triggered by fever | No | 20/28 (71%) |
| Cluster occurrence | Yes | 1 |
| Status epilepticus | No | 8/35 (23%) |
| D.D./I.D. | Yes | 24 ID (mild 7, moderate 6, moderate-severe 2 severe 6, severity rate N.R. 3), borderline 5, normal 6 |
| Psychiatric problems/behavioural disturbance | No | 18/33 (54%) |
| Effective AEDs | No | Data available of 28/35 patients: VPA 11/25, LEV 10/15, CLB 4/10, CLN 3/6, PHB 4/6, OXC 3/14, ZNS 1/2, CPZ 1/6, TPM 2/16 |
| Seizures free for ≥1 year before last follow up | No | 5/31 (16%) |
| Age at last follow up | 2 y + 10 m | From 1 y + 11 m to 25 y (mean 6 y, median 6 y, 5 m) |
| Interictical epileptic discharges (EEG) | Normal | Abnormal in 20/27 (74%) |
| Cerebral MRI | Normal | Abnormal in 3/17 (18%) |
| Types of PCDH19 variant | Missense | Missense 15, Truncating 18, Splice site variant 1, Whole gene deletion 1 |
| % mutated cells | 80% (blood) | From 0–100% in blood or other tissues |
AEDs, anti-epileptic-drugs; CLB, clobazam; CLN, clonazepam; D.D., developmental delay; GTCS, generalized tonic-clonic seizures; I.D., intellectual disability; LEV, Levetiracetam; M, months; MRI, magnetic resonance imaging; MS, myoclonic seizures; NR, not reported; OXC, oxacarbazepine; PHB, phenobarbital; SG, secondary generalization; TPM, topiramate; VPA, valproate acid; y, years; ZNS, zonisamide.