(part iv) Table summarising findings for each child individually
| Child (family) | 17 | 18 | 19 | 20 |
| Necessary criteria | ||||
| Infantile hypotonia | Y | N | N | Y |
| Profound psychomotor retardation | Y | Y | Y | Y |
| Convulsive disorders presenting with myoclonias and infantile spasms | Y | Y | Y | Y |
| Absence or early loss of visual fixation | Y | Y | Y | ? |
| Atrophy of optic disc by 2 years | Y | Y | Y | N |
| Progressive brain atrophy: affecting cerebellum±brainstem | Y | ? | Y | N |
| Supportive criteria | ||||
| Dysmorphic features | Y | Y | Y | N |
| Oedema of the face and limbs | Y | Y | Y | Y |
| Features contrary to PEHO | ||||
| Other features | Microcephaly at birth | Hypertonia in infancy | Hypertonia in infancy | – |
| Abnormal gyral formation | ||||
| Diagnosis assigned | ||||
| Diagnosis assigned | PEHO-like | PEHO-like | PEHO-like | Excluded |
| Genetics | ||||
| Gene | SCN1A | No clear pathogenic mutation found | PLAA | |
| Inheritance | Heterozygous AD | Homozygous AD | ||
| Nucleotide change | c.1252A>C | c.68G>T | ||
| Protein change | p.(Iso418Leu) | p.(Gly23Val) | ||
| ExAC frequency | 0 | 0 | ||
| Pathogenicity* | SIFT=0.01 | SIFT=0.01 and see ref 26 |
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.