Table 2. Clinical features and EEG findings of ten patients with 22q11.2 deletion syndrome with structural epilepsy.
No. | Age/sex | Age at onset of seizure | Type of seizure | MRI finding | EEG finding | Delayed development | Intellectual disability | Psychiatric disorders |
---|---|---|---|---|---|---|---|---|
Congenital CNS abnormality | ||||||||
1 | 19 yr/M | 3 mo | GTCS | Polymicrogyria | Focal ED | + | + | ASD |
2 | 2 yr/F | 4 mo | GTCS | Polymicrogyria | Focal ED | + | + | - |
3 | 13 yr/M | 31 mo | FCS | Polymicrogyria | Focal ED | + | + | - |
Acquired CNS abnormality | ||||||||
4 | 2 yr/M | 3 d | FCS | Calcification | Focal ED | + | + | - |
5 | 10 yr/F | 21 d | GTCS | Cerebral atrophy | Focal and generalized ED | + | + | - |
6 | 13 yr/F | 6 mo | GTCS | Cerebral atrophy | Normal | + | + | ADHD |
7 | 19 yr/F | 23 mo | GTCS | Cerebral atrophy | Focal ED | + | + | - |
8 | 15 yr/M | 3 yr | GTCS | Cerebral infarction | Excessive delta slowings | - | - | |
9 | 22 yr/F | 11 yr | FCS | Multifocal T2 HSI in WM | Focal ED | + | + | Mood disorder |
10 | 24 yr/F | 13 yr | GTCS | Calcification, multifocal T2 HSI in WM | Focal and generalized ED | + | + | - |
ADHD: attention-deficit/hyperactivity disorder, ASD: autism spectrum disorder, CNS: central nervous system, ED: epileptiform discharges, EEG: electroencephalogram, F: female, FCS: focal clonic seizure, GTCS: generalized tonic-clonic seizures, HSI: high signal intensity, M: male, MRI: magnetic resonance imaging, No: number, WM: white matter.