ABSTRACT
Clinical data (including clinical phenotype and gene mutation characteristics) of a case of epileptic encephalopathy carrying the RHOBTB2 gene mutation treated at the Department of Pediatric Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University in June 2020 was analyzed retrospectively.Relevant literatures were reviewed as well.A male patient aged 3 months and 12 days presented with repeated convulsions for 2 days.The main symptoms included afebrile epileptic status, featuring eye deviation to the left, and limb tonic-clonic jerk lasting for about 30 minutes.Physical examinations showed that the child could not control his head and cried lowly.The whole exome sequencing data revealed a novel heterozygous variation in exon 7 of the RHOBTB2 gene: c.1448G>A(p.Arg483His). Seizures were controlled by the treatment of Levetiracetam combined with Topiramate, but remained growth retardation.The prognosis of epileptic encephalopathy caused by the RHOBTB2 gene mutation is poor, and most children have dyskinesia and microcephaly.