Table 2.
Clinical features of 11 mosaic male patients with PCDH19-related epilepsy in our cohort.
|
Patient No. |
Seizure onset age (mo) |
Seizure types |
Cluster seizures |
Fever sensitivity |
SE |
Interictal VEEG |
Age at the last follow- up |
Seizure frequency at the last follow-up |
Treatment | DD/ID |
Autistic features |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 5 | Fs | Y | N | N | M | 8 yrs 8 mo | 1–2 months between clusters | CLB*,CZP,VPA,LEV, TPM,OXC,KD | Severe/profound | Y |
| 2 | 6 | Fs | Y | Y | Y | M | 6 yrs 5 mo | 1–3 months between clusters | CLB*,VPA,OXC,TPM, LEV,KD | Mild | Y |
| 3 | 6 | Fs, MS | Y | Y | N | M | 8 yrs 6 mo | 1–2 months between clusters | LTG,ZNS,CZP*,VPA, TPM,OXC | Severe/profound | Y |
| 4 | 4 | Fs | Y | Y | N | F | 4 yrs 3 mo | 1 month between clusters | CZP,VPA*,LTG,TPM,LEV,OXC, CBZ | Moderate | Y |
| 5 | 6 | Fs, GTCS, TS | Y | Y | Y | F | 3 yrs 7 mo | 3–4 months between clusters | VPA,TPM,LCM,CLB | Moderate (3yrs 7mo, DQ 39) | N |
| 6 | 5 | Fs | Y | N | Y | G, F | 2 yrs 2 mo | 1–4 months between clusters | CLB*,LEV*,VPA,LTG,TPM,NZP | Mild (1yrs 10mo, DQ 60) | N |
| 7 | 8 | Fs | Y | N | N | M | 3 yrs | 1–2 months between clusters | VPA,TPM | Moderate (3yrs, DQ 31) | N |
| 8 | 9 | GTCS, MS, AAS | Y | Y | N | F | 14 yrs | Seizure–free for 8 yrs | VPA*,TPM* | Severe/profound (11yrs, IQ 25) | Y |
| 9 | 8 | Fs, GTCS, TS | Y | Y | N | M | 2 yrs 9 mo | No seizures for 7 months | LEV,VPA*,OXC* | Moderate (2yrs 1mo, DQ 38) | N |
| 10 | 8 | Fs | Y | Y | N | Normal | 5 yrs 4 mo | Seizure–free for 3yrs 8mo | VPA*,LEV* | Borderline (5yrs 4mo, DQ 85) | N |
| 11 | 9 | Fs | Y | Y | N | G, F | 1yr 11 mo | No seizures for 10 months | VPA*,LEV*,OXC | Borderline (11mo, DQ 82) | N |
AAS, atypical absence seizures; CLB, clobazam; CZP, clonazepam; CBZ, carbamazepine; DD, developmental delay; Fs, focal seizures; F, focal epileptic discharges; G, generalized epileptic discharges; GTCS, generalized tonic-clonic seizures; ID, intellectual disability; KD, ketogenic diet; LCM, lacosamide; LTG, lamotrigine; LEV, levetiracetam; M, multifocal epileptic discharges; MS, myoclonic seizures; mo, months; N, no; NZP, nitrazepam; OXC, oxcarbazepine; SE, status epilepticus; TPM, topiramate; TS, tonic seizures; yr, year; yrs, years; VPA, valproic acid; Y, yes; ZNS, zonisamide. Bold indicates the treatment used at the last follow-up.
indicates effective treatment.