Table 3 Clinical feature of reported FARS2 subjects [2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23]
early-onset epileptic encephalopathy | hereditary spastic paraplegia | juvenile onset epilepsy | |
|---|---|---|---|
Number | 31 | 16 | 3 |
Male: female | 11:18 | 6:10 | 1:2 |
Ethnicity, Asian | 24/31 | 4/13 | 1/3 |
Consanguinity | 15/26 | 4/12 | 0 |
Onset age | 1 day-10 month | 1 month-5 years | 8-16 years |
Alive | 10/27 | 16/16 | 1/3 |
Developmental delay | 29/29 | 7/13 | 1/3 (motor and speech) |
seizures | 28/31 | 3/15 | 3/3 |
Heterozygous | 11/31 | 11/16 | 3/3 |
Brain atrophy | 18/23 | 3/14 | 2/3 |
Thin corpus callosum | 12/23 | 0 | 0 |
Hepatic disease | 14/23 | 0 | 0 |
Increased transaminases | 15/22 | 4/6 | 0 |
Elevated lactate | 23/24 | 4/10 | 1/3 |
Increased CSF lactate | 9/9 | 2/4 | 0 |