(part ii) Table summarising findings for each child individually
| Child (family) | 6 | 7 | 8 (B) | 9 (B) | 10 (B) | 11 |
| Necessary criteria | ||||||
| Infantile hypotonia | Y | Y | Y | Y | Y | Y |
| Profound psychomotor retardation | Y | Y | Y | Y | Y | Y |
| Convulsive disorders presenting with myoclonias and infantile spasms | Y | Y | Y | Y | Y | Y |
| Absence or early loss of visual fixation | Y | Y | Y | Y | Y | Y |
| Atrophy of optic disc by 2 years | Y | <2 years | Absent VEP | Y | Died <2 years | Died <2 years |
| Progressive brain atrophy: affecting cerebellum±brainstem | Y | Y | N (supratentorial atrophy; delayed myelination) | Normal | Y | |
| Supportive criteria | ||||||
| Dysmorphic features | Y | Y | Y | Y | Y | Y |
| Oedema of the face and limbs | Y | Y | Y | Y | N | Y |
| Features contrary to PEHO | ||||||
| Other features | – | – | – | – | – | – |
| Diagnosis assigned | ||||||
| Diagnosis assigned | PEHO | PEHO | PEHO-like | PEHO-like | PEHO-like | PEHO |
| Genetics | ||||||
| Gene | SCN2A | PLAA | UBA5 | UBA5 | Unable to sequence DNA | No clear pathogenic mutation found |
| Inheritance | Heterozygous AD | Homozygous AD | De novo AD | Heterozygous AD | ||
| Nucleotide change | c.743T>C | c.68G>T | c.1214A>T | |||
| c.1111G>A | ||||||
| Protein change | p.(Leu248Pro) | p.Gly23Val | p.(ter405Leu+12*Ter) | |||
| p.(Ala371Thr) | ||||||
| ExAC frequency | 0 | 0 | 0 | |||
| Pathogenicity* | 0 | Ref 26 | Assumed pathogenic see refs 36 and 37 | |||
Children 1–5 are from family A; children 8–10 are from family B; children 14–16 are from family C.
*For each mutation pathogenicity, details are within the paper. Here we give either a reference confirming pathogenicity or where this is unavailable, the SIFT score ().
ExAc, Exome Aggregation Consortium; PEHO, progressive encephalopathy, hypsarrhythmia and optic atrophy; SIFT, Scale Invariant Feature Transform; VEP, visual evoked potentials.