TABLE 1.
Clinical information of VWM patients in this study
| Categories | VWM1 | VWM2 |
|---|---|---|
| Gender | Male | Male |
| Onset age | 4 years old | 12 months |
| Onset symptom | Regression of motor function | Regression of motor function, epileptic seizures |
| Outcome | Died at 16 years old | 2 years and 7 months old currently, walk alone, actively grasp objects, and has normal cognitive development |
| Mutated gene | EIF2B5 | EIF2B4 |
| Mutation on genomic DNA | c.1827_1838del(paternal) c.1157G>A(maternal) | c.932T>C(paternal) c.1195A>C(maternal) |
| Amino acid change | p.610_613del4 p.Gly386Val | p.Ile311Thr p.Lys399Gln |