From: Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
Case | Sex | r(20) %a | r(20) %b | Age at study (year) | Age at diagnosis (year) | IQ | Growth retardation | Facial dysmorphisms | Major Malform-ations | Behaviour problem | Seizures | Onset age (year) | Type of epilepsy | Clinical course | NCSE | Seizures frequency | EEG |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FL° | M | 71 | 81 | 30 | 17 | 60 | - | - | - | + | + | 5 | Focal Epilepsy | Drug-resistance | + | Monthly | Fronto-temporal sharp-waves |
DG* | F | 67 | 58 | 22 | 13 | 69 | - | - | - | + | + | 4 | Focal Epilepsy | Drug-resistance | + | Weekly | Frontal sharp-waves |
CD* | F | 42 | 46 | 13 | 10 | 80 | - | - | - | + | + | 9 | Focal Epilepsy | Drug-resistance | + | Daily | Frontal sharp-waves |
BV | F | 42 | 37 | 19 | 12 | 71 | + | - | + | +** | + | 12 | Focal epilepsy | Drug-resistance | + | Daily | Frontal sharp-waves |
PE | F | 34 | 5 | 16 | 14 | 80 | - | - | - | + | + | 10 | Focal epilepsy | Drug-resistance | + | Weekly | Frontal sharp-waves |
MM | F | 30 | NE | 3 | PD | 101 | + | + | - | - | - | - | - | - | - | - | Normal |
FMA° | F | 9 | 0 | 59 | 44 | 83 | - | - | - | - | + | 11 | Focal epilepsy | Controlled | - | - | Fronto-temporal sharp-waves |
BD° | M | 8 | 3 | 34 | 21 | N | - | - | - | - | + | 17 | ND | Controlled | - | - | Fronto-temporal sharp-waves |