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

Acta Epileptologica

Yan Sun¹  Yuehua Zhang²  Ying Yang²  Miaomiao Cheng²  Jie Zhang²  Xueyang Niu²  Quanzhen Tan² 

[1] Department of Neurology, Pediatric Patients’s Hospital of Xinjiang Uygur Autonomous Region;Department of Pediatrics, Peking University First Hospital;

关键词: RHOBTB2;    Gene;    Epilepsy;    Paroxysmal movement disorders;   

DOI  :  10.1186/s42494-021-00056-y

来源: DOAJ

【 摘 要 】

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

【 授权许可】

Unknown