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letter
. 2020 Jun 5;23(5):718–722. doi: 10.4103/aian.AIAN_32_20

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