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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

  Affected sisters UBA5 early-onset epileptic encephalopathy cases [2, 3]
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