Table 1.
Case 1 | Case 2 | |
---|---|---|
Gender, age | Male, 23 years | Male, 1 years 2 months |
Age of seizure onset | 1 h | 4 h |
Consanguinity | no | no |
Prenatal history | malformation of brain | unremarkable |
Epilepsy | multifocal, refractory | focal to generalized, recurrent |
Hypotonia | yes | yes |
Developmental delay | global | global |
Skeletal involvement | scoliosis | unknown |
Feeding | gastrostomy | oral |
Mutation | TUBB2B | TUBA1A |