Table 1. Clinical characteristics of patients with PCDH19 mutations.
| Family number | 1 | 2 | 2* | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 |
| Patient | N 07 0168 | N 06 1257 | N 06 1258 | N 06 1358 | N 07 0627 | N 07 0971 | 18050_31839 | N 06 0730 | N 07 0661 | N 07 1000 | N 06 1016 | N 06 0991 | N 05 1157 |
| Sex | M | F | F | F | F | F | F | F | F | F | F | F | F |
| Present age (years) | 7 | 6 | 3 | 7 | 3 | 13 | 10 | 12 | 2,5 | 18 | 3,5 | 6 | 8 |
| PMD previous to seizures onset | Nl | Nl | Nl | Nl | ? | Nl | Nl | Nl | ? | Nl | Nl | Nl | Nl |
| Age at seizures onset (months) | 12 | 9 | 11 | 11 | 10 | 7.5 | 11 | 9 | 9 | ? | 9 | 8 | 8 |
| Type of seizures at onset | F, GTC, prolonged, repetitive | Focal | Unilat | F, GTC, prolonged, repetitive | GTC | F, unilat | F, unilat | GTC | Unilat | F,unilat | F, GTC | Partial | F,unilat |
| Presence of febrile seizures (FS) | +(>50%) | + | + | +(>50%) | +(>50%) | +(>50%) | +(50%) | +(>50%) | +(>50%) | +(>50%) | +(>50%) | +(>50%) | +(>50%) |
| Unilateral (or hemiclonic) seizures | + | + | − | − | + | + | + | + | + | + | + | + | + |
| Other seizure types | |||||||||||||
| - Partial | + | + | + | − | + | + | + | + | + | + | + | + | + |
| - GTC | + | + | + | + | + | + | + | + | + | + | + | + | + |
| - Myoclonic jerks | + | − | − | − | − | − | + | − | − | − | − | − | − |
| - Absences | ? | + | + | ? | − | − | + | − | − | − | − | − | − |
| Repetitive seizures (in clusters) | + | + | + | + | + | + | + | + | + | + | − | + | + |
| Status epilepticus | + | + | − | − | − | + | − | − | + | + | + | − | − |
| Photosensitivity | − | − | − | − | − | − | − | − | − | − | + | − | |
| Persistance of seizures in spite of treatment | +(F) | + | − | + | + | + | + | − | + | + | − | + | + |
| Mental retardation | moderate/severe | mild | mild | moderate | moderate/severe | severe | mild | moderate | mild | moderate | mild | mild | moderate |
| Language delay | +(W-S) | +(W-S) | − | +(W-S) | +(abs) | +(W-S) | +(W-S) | +(W-S) | +(W) | +(W-S) | +(W-S) | +(W-S) | +(W-S) |
| Behavioral disturbances | + | + | − | + | + | + | + | ? | ? | − | − | + | + |
| Autistic features | + | − | − | + | − | − | − | − | − | − | − | − | − |
| Motor delay | + | +(mild) | +(mild) | + | +(Hypotonia) | + | +(mild) | − | + | − | − | + | + |
| Ataxia | + | + | +(mild) | + | + | + | − | ? | − | − | − | + | + |
| Other clinical features | − | − | − | Tall stature | Hyperlaxity | − | − | − | − | − | − | − | − |
| Treatment (AED) | |||||||||||||
| - Sodium Valproate | + | + | + | + | + | + | + | + | + | + | + | + | |
| - Clobazam | + | + | + | + | + | + | + | + | + | ||||
| - Clonazepam | + | + | + | + | + | + | |||||||
| - Topiramate | + | + | + | + | + | + | + | ||||||
| - Stiripentol | + | + | + | + | |||||||||
| - Lamotrigine | + | + | + | ||||||||||
2*: patient N 06 1258 is the sister of patient N 06 1257 (index case); PMD = psychomotor development, Nl = normal, F = febrile, unit = unilateral, GTC = generalized tonic-clonic, W-S = words-sentences, abs = absent, AED = anti epileptic drugs.