Table 1.
Family history, growth parameters and manifestation of first symptoms in patients with biallelic CACNA2D1 variants
| Patient 1 | Patient 2 | |
|---|---|---|
| Ethnicity | Afghan | Caucasian, Native American |
| Parental consanguinity | First cousins | No |
| Family history | Epileptic encephalopathy in paternal uncle | No |
| Sex | Male | Male |
| CACNA2D1 variants (NM_000722.3) | c.818_821dup/p.(Ser275Asnfs*13) homozygous | c.13_23dup/p.(Leu9Alafs*5) and c.626G>A/p.(Gly209Asp) compound heterozygous |
| Pregnancy | Uncomplicated | Uncomplicated |
| Birth at | 37 weeks, uncomplicated | 40 weeks |
| Birth weight, g/z-score | 2960/−0.5 | 3345/−0.73 |
| Birth length, cm/z-score | 50/−0.2 | Unknown |
| OFC at birth, cm/z-score | 33/−1.0 | Unknown |
| Age at last examination | 4 years 11 months | 4 years |
| Weight at last examination, kg/z-score | 18/−0.4 | 15.5/−0.52 |
| Length at last examination, cm/z-score | 110/−0.2 | 97.8/−0.68 |
| OFC at last examination, cm/z-score | 48.9/−2.1 | 47.5/−2.02 |
| Manifestation | ||
| First symptoms at age of | 3 months | <2 months |
| First clinical signs | Severe hypotonia with poor head control, no visual attention | Hypotonia with poor head control, decreased visual attention |