Table 2

(part ii) Table summarising findings for each child individually

Child (family)678 (B)9 (B)10 (B)11
Necessary criteria
 Infantile hypotoniaYYYYYY
 Profound psychomotor retardationYYYYYY
 Convulsive disorders presenting with myoclonias and infantile spasmsYYYYYY
 Absence or early loss of visual fixationYYYYYY
 Atrophy of optic disc by 2 yearsY<2 yearsAbsent VEPYDied <2 yearsDied <2 years
 Progressive brain atrophy: affecting cerebellum±brainstemYYN (supratentorial atrophy; delayed myelination)NormalY
Supportive criteria
 Dysmorphic featuresYYYYYY
 Oedema of the face and limbsYYYYNY
Features contrary to PEHO
 Other features
Diagnosis assigned
 Diagnosis assignedPEHOPEHOPEHO-likePEHO-likePEHO-likePEHO
 Gene SCN2A PLAA UBA5 UBA5 Unable to sequence DNANo clear pathogenic mutation found
 InheritanceHeterozygous ADHomozygous ADDe novo ADHeterozygous AD
 Nucleotide changec.743T>Cc.68G>Tc.1214A>T
 Protein changep.(Leu248Pro)p.Gly23Valp.(ter405Leu+12*Ter)
 ExAC frequency000
 Pathogenicity*0Ref 26Assumed 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.