Table 1 Clinical features of the two affected sisters compared to reported phenotypes in cases of UBA5 early-onset epileptic encephalopathy
From: Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters
| Â | Affected sisters | |
|---|---|---|
Pregnancy and delivery | Normal | Normal |
Failure to thrive | Yes | Yes |
Central Nervous System | Early-onset epileptic encephalopathy Dystonic cerebral palsy Hypotonia Infantile spasms Seizures:  - Recurrent  - Resistant to treatment Developmental delay Decline in motor skills | Early-onset epileptic encephalopathy Dystonic movements Spasticity Hypotonia Infantile spasms Seizures:  - Recurrent  - Pharmaco-resistant Developmental delay Decline in motor skills |
Intellectual disability | Severe | Ranging from moderate to severe |
Optic fundi | Normal | Normal |
Vision | Difficulty in fixating and following | Impaired fixation, squinting |
Microcephaly | Yes | Yes (< −3SD), one case with -2SD |
Brain MRI | Relatively wide sulci Mild cerebral atrophy | Widening of sylvian fissures (lateral sulcus) Thin corpus callosum White matter hyperintensities Delayed myelination Mild cerebellar hypoplasia Mild cortical and central atrophy Mild cerebral/cerebellar atrophy |
EEG abnormalities | Modified hypsarrhythmia | Ranging from none to hypsarrhythmia |