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

Springer Science and Business Media LLC - Tập 3 Số 1 - 2021
Xueyang Niu1, Yan Sun2, Ying Yang1, Miaomiao Cheng1, Quanzhen Tan1, Jie Zhang1, Yuehua Zhang1
1Department of Pediatrics, Peking University First Hospital, Beijing, China
2Department of Neurology, Pediatric Patients’s Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China

Tóm tắt

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.

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Tài liệu tham khảo

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Tập 3 Số 1

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