癫痫性脑病(epileptic encephalopathy,EE)是以顽固性癫痫发作和脑电活动严重异常为主要特征的一组疾病综合征。儿童期间起病的EE通常还伴有精神运动发育迟缓或倒退。2017年国际抗癫痫联盟(International League Against Epilepsy,ILAE...癫痫性脑病(epileptic encephalopathy,EE)是以顽固性癫痫发作和脑电活动严重异常为主要特征的一组疾病综合征。儿童期间起病的EE通常还伴有精神运动发育迟缓或倒退。2017年国际抗癫痫联盟(International League Against Epilepsy,ILAE)对癫痫分类进行更新,强调使用发育性和癫痫性脑病这一术语,EE用于在癫痫发生前没有发育落后,而且基因突变本身也不会导致发育迟缓的情况,发育性和癫痫性是发挥作用的两个因素[1]。展开更多
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
癫痫性脑病为癫痫活动本身导致严重认知和行为障碍的疾病,而发育性癫痫性脑病(Developmental and epileptic encephalopathy,DEE)是指病因及癫痫活动共同作用对发育迟缓的影响[1],是一组严重威胁儿童身体健康的神经发育性疾病,其主要临...癫痫性脑病为癫痫活动本身导致严重认知和行为障碍的疾病,而发育性癫痫性脑病(Developmental and epileptic encephalopathy,DEE)是指病因及癫痫活动共同作用对发育迟缓的影响[1],是一组严重威胁儿童身体健康的神经发育性疾病,其主要临床特征是频繁的癫痫样活动、发育落后和进行性神经系统功能倒退的一组癫痫综合征,治疗困难。现在已报道超过100多个基因与发育性癫痫性脑病相关[2]。展开更多
乳腺癌缺失基因2（deleted in breast cancer， DBC2）属于一种抑癌基因，定位于人类染色体8p21，全长20.5Kbp，又名Rhobtb2（rho-related BTB do-main-containing@2），即Ras同源蛋白相关的包含两个BTB结构域的基因2。2002年由Hamaguch...乳腺癌缺失基因2（deleted in breast cancer， DBC2）属于一种抑癌基因，定位于人类染色体8p21，全长20.5Kbp，又名Rhobtb2（rho-related BTB do-main-containing@2），即Ras同源蛋白相关的包含两个BTB结构域的基因2。2002年由Hamaguchi等[1]应用表象差异分析法分离得到。DBC2肿瘤抑制基因是目前与90﹪的散发性，非家族性乳腺癌相关的少数基因之一。现就其研究进展综述如下。展开更多
文摘癫痫性脑病(epileptic encephalopathy,EE)是以顽固性癫痫发作和脑电活动严重异常为主要特征的一组疾病综合征。儿童期间起病的EE通常还伴有精神运动发育迟缓或倒退。2017年国际抗癫痫联盟(International League Against Epilepsy,ILAE)对癫痫分类进行更新,强调使用发育性和癫痫性脑病这一术语,EE用于在癫痫发生前没有发育落后,而且基因突变本身也不会导致发育迟缓的情况,发育性和癫痫性是发挥作用的两个因素[1]。
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.
文摘癫痫性脑病为癫痫活动本身导致严重认知和行为障碍的疾病,而发育性癫痫性脑病(Developmental and epileptic encephalopathy,DEE)是指病因及癫痫活动共同作用对发育迟缓的影响[1],是一组严重威胁儿童身体健康的神经发育性疾病,其主要临床特征是频繁的癫痫样活动、发育落后和进行性神经系统功能倒退的一组癫痫综合征,治疗困难。现在已报道超过100多个基因与发育性癫痫性脑病相关[2]。
文摘乳腺癌缺失基因2（deleted in breast cancer， DBC2）属于一种抑癌基因，定位于人类染色体8p21，全长20.5Kbp，又名Rhobtb2（rho-related BTB do-main-containing@2），即Ras同源蛋白相关的包含两个BTB结构域的基因2。2002年由Hamaguchi等[1]应用表象差异分析法分离得到。DBC2肿瘤抑制基因是目前与90﹪的散发性，非家族性乳腺癌相关的少数基因之一。现就其研究进展综述如下。
