RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which characterized by epilepsy, delay, microcephaly, unspecific facial dysmorphism, paroxysmal movement disorders. Most previous studies showed that the phenotypes of include encephalopathy(DEE) DEE Only one study patient variant had disorders no epilepsy. Case presentations Two cases variants are presented here: was diagnosed as DEE, he recurrent afebrile focal status epilepticus extrapyramidal symptoms in infancy. Interictal electroencephalogram (EEG) discharges. Brain magnetic resonance imaging (MRI) cortical dysplasia. Epilepsy case refractory. Nevertheless, two only alone adolescence. Video EEG discharges during an interictal dystonic episode brain MRI normal. Conclusion The disorders, can be pathogenic genes