Table 1. Summaries of the clinical information of the patients and the results of mutation analyses.
| Patient | Gender | Present age (y/m) | Onset age (y/m) | First symptom | Present status | Consanguinity | Mutations | Parental origins | Provoking event | Macrocephaly/OFC a (measured age) | Seizures (onset age) (y/m) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | F | 55 y | 1 y 10 m | Seizure | Bedridden | + | S93L/S93L | Not confirmed | Head trauma at 18 m | + 58.5 cm (55 y) | + (22 m) |
| 2 | F | 51 y | 41 y | Cognitive impairment | Intellectual disability Spasticity | + | S93L/S93L | Not confirmed | − | − 58 cm (51 y) | + (47 y) |
| 3 | F | 36 y | 1 y 6 m | Macrocephaly | Bedridden | + | S93L/S93L | Not confirmed | Head trauma at 2 y | + 54 cm (1 y) 62 cm (15 y) | + (2 y) |
| 4 | F | 31 y | 1 y 3 m | Seizure | Intellectual disability | − | S93L/S93L | Not confirmed | Fever at 15 m | + NI | + NI |
| 5 | F | 18 y | 2y | Motor disability | Inability to walk | − | S93L/A275D | Confirmed | − | − 58 cm (18 y) | − |
| 6 | M | 11 m | 11 m | Macrocephaly | NA | − | S93L/V194Sfs*2 | Not confirmed | − | + 50.3 cm (11 m; +2.9 s.d.) | − |
| 7 | F | 9 m | 9 m | Macrocephaly | NA | − | S93L/A275D | Confirmed | − | + 49.5 cm (9 m; +2.5 s.d.) | − |
Abbreviations: F, female; M, male; m, months; NI, no detailed information; s.d., standard deviation; y, years.
a
Mean OFC for adult Japanese females is 54.6 cm (the third percentile=52.0 cm, the 97th percentile=58.1 cm).