Table 2.
No. of patients reviewed | 96 |
No. of Refs. Reviewed | 16 |
Males | 42.5% |
Age at onset | |
Average | 7.6 week |
Range | 1 day – 7 month |
Prognosis | |
Developmental delay | 71% |
Normal development | 1% |
Hypotonia | 56% |
Deceased | 21% |
Causes – brain abnormalities | |
Normal | 16 |
Atrophy | 24 |
Delayed myelination | 12 |
Encephalopathy | 57 |
Thin corpus callosum | 3 |
Other lesions | 4 |
Other findings | 7 |
Not considered | 5 |
Causes – genetic alterations (out of those sequenced) | |
SCN1A | 2/32 |
KCNT1 | 10/30 |
TBC1D24 | 2/15 |
Not considered | 47 |