Table 1.
Clinical Features of Affected Individuals
| Family A Individual III-3 (A1) | Family A Individual III-12 (A2) | Family B Individual II-1 (B3) | Family B Individual II-2 (B4) | |
|---|---|---|---|---|
| Age at last examination | 11 years (exitus) | 7.5 months | 6 years 7 months | 3 years 3 months |
| Gender | M | M | F | F |
| Parental consanguinity | + | + | − | − |
| Developmental delay | + | + | + | + |
| Developmental regression | + | + | + | + |
| Febrile-induced regression | + | + | + | + |
| First episode of regression | 21 months | 5.5 months | 15 months | 30 months |
| Epilepsy | + | − | + | + |
| Progressive microcephaly | + | + | + | + |
| Hypotonia | − | + | + | + |
| Appendicular spasticity | + | − | − | − |
| Ataxia | + | NR | + | + |
| Myoclonic jerks | − | + | + | + |
| Cerebellar atrophy | + | + | + | + |
| Basal ganglia involvement | + | − | − | − |
| Hyponatremia upon acute presentation | + | + | + | + |
| NUP214 variant | c.112C>T (p.Arg38Cys) [hom] | c.112C>T (p.Arg38Cys) [hom] | c.1159C>T (p.Pro387Ser); c.1574delC (p.Pro525fs) | c.1159C>T (p.Pro387Ser); c.1574delC (p.Pro525fs) |
Abbreviations: F, female; M, male; NR, not relevant.