A Rare Cause of Developmental Epileptic Encephalopathy; UBA5 Gene Mutation

Developmental epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the early onset of refractory seizures. We describe a patient who had severe global developmental delay and early onset treatment resistant epilepsy with UBA5 gene mutation. Two months old female patient had seizures on second day of life. Seizures were characterized by jeneralize tonic and myoclonic with eye deviation. Electroencephalogram showed multifocal epileptiform discharges. Magnetic resonance imaging findings were diffuse cerebral and cerebellar atrophy with enlarged ventricles and thin corpus callosum. The metabolic workup was found normal. Despite the multiple antiepileptic drugs seizures couldn't stop. Whole exome sequencing was performed in this case to detected the etiology. We identified an homozygous variant c.440A>G (p.His147Arg) in the UBA5 gene, a gene previously implicated in early infantile epileptic encephalopath-44. In addition, heterozygous variants were detected in the same gene in her parents. UBA5-related Early Epileptic Encephalopathy should be considered as an opinion in the diagnosis of patients with early onset treatment-resistant epilepsy and severe global developmental delay.
Keywords: Encephalopathy, Epilepsy, Resistant, Developmental