Table 1.
Variables | No. of patients (%) |
---|---|
Total no. of patients | 63 |
Gender distribution | |
Males | 36 (57.1) |
Females | 27 (42.9) |
Age of onset (months) | |
0-12 | 47 (74.6) |
>12 | 16 (25.4) |
Age at diagnosis (months) | |
0-12 | 32 (50.8) |
13-24 | 11 (17.5) |
>24 | 20 (31.7) |
H/O Consanguinity | 47 (74.6) |
Seizure type | |
Focal clonic seizures | 15 (23.8) |
Generalised onset–motor | |
Tonic clonic | 46 (73) |
Myoclonic | 12 (19) |
Epileptic spasms | 7 (11.1) |
Multiple types | 20 (31.7) |
Multiple episodes prior to specific therapy | 43 (68.3) |
Status epilepticus | 7 (11.1) |
Developmental delay | 37 (58.7) |
Developmental regression | 20 (31.7) |
Diagnosis confirmed by | |
Biochemical including enzyme assay | 42 (66.7) |
Genetic testing | 14 (22.2) |
Therapeutic trial | 4 (6.3) |
Skin biopsy | 3 (4.8) |