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 movemen...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.展开更多
基金supported by Key Research Project of the Ministry of Science and Technology of China(Grant Nos.2016YFC0904400 and 2016YFC0904401).
文摘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.
