Table 1.
Clinical data (Case 1 and 2)
| Findings | Patient 1 | Patient 2 |
|---|---|---|
| Age/sex | 9 years/M | 7 months/F |
| Family history of epilepsy | Absent | Absent |
| Parental consanguinity | Absent | Present |
| Age at seizure onset | 8 years | 6 months |
| IQ | 77 | Not done |
| Dysmorphic Features | Synophrys, small posteriorly placed ears | Frontal bossing, epicanthal fold, open mouth, large pinna, microcephaly |
| MRI Brain | Normal | Widened bilateral frontal and anterior temporal sub arachnoids CSF spaces with deepened Sylvian fissure |
| Seizure history | GTCS, staring episodes | Focal hypomotor seizures and GTCS |
| Number of AED tried | 4 | 5 |
| Current AED | VPA, CLB | LVX, TPM, CLB |
| r(20) Mosaicism in lymphocytes | 12% | 100% |
VPA: Valproate; CLB: Clobazam; LVX: Levetiracetam, TPM: Topiramate