Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause o...Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.展开更多
Dravet综合征（Dravet syndrome, DS）是儿童期起病的一种癫痫性脑病，由法国医生Dravet于1978年首次报道，早期称为婴儿严重肌阵挛性癫痫（severe myoclonic epilepsy in infancy, SMEI），但以后发现少数患儿病程中可始终不出现肌阵...Dravet综合征（Dravet syndrome, DS）是儿童期起病的一种癫痫性脑病，由法国医生Dravet于1978年首次报道，早期称为婴儿严重肌阵挛性癫痫（severe myoclonic epilepsy in infancy, SMEI），但以后发现少数患儿病程中可始终不出现肌阵挛发作，故2001年国际抗癫痫联盟（International League Against Epilepsy, ILAE）将其正式更名为Dravet 综合征。本病发病率约为1/40000~1/20000，男女比例为2：1，约占小儿各型肌阵挛性癫痫的29.5%，占3岁以内婴幼儿癫痫的8%［1］。随着遗传诊断技术的发展，近年对DS的发病机制、临床特征及治疗等认识越来越清楚，现对DS的研究进展进行大致介绍。展开更多
Dear Editor,Multiple evanescent white dot syndrome （MEWDS） was first described in 1984 as a rare, acute, unilateral,multifocal retinochoroidal disorder, typically affecting young myopic women. Previous studies with ...Dear Editor,Multiple evanescent white dot syndrome （MEWDS） was first described in 1984 as a rare, acute, unilateral,multifocal retinochoroidal disorder, typically affecting young myopic women. Previous studies with fluorescein angiography （FA） and electrophysiology suggested that MEWDS to be a disease in the retinal pigment epithelium （RPE） or outer retina, while recent studies with spectral- domain optical coherence tomography （SD-OCT） suggested it may be an outer retinal disease due to observation of hyperreflective material in outer retina and subtle disruptionsof the ellipsoid zone without RPE disruption.展开更多
Dravet综合征（Dravet Syndrome,DS）是一种罕见的婴儿期起病的癫癎性脑病,由法国医生Dravet于1978年在法国内科杂志首次报道。国际抗癫癎联盟（International League Against Epilepsy,ILAE）1985年及1989年发表的'癫癎和癫癎综合...Dravet综合征（Dravet Syndrome,DS）是一种罕见的婴儿期起病的癫癎性脑病,由法国医生Dravet于1978年在法国内科杂志首次报道。国际抗癫癎联盟（International League Against Epilepsy,ILAE）1985年及1989年发表的'癫癎和癫癎综合征的分类'将其列入婴儿严重肌阵挛性癫癎（Severe Myoclonic Epilepsy In Infancy,SMEI）[1-2],展开更多
文摘Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.
文摘Dravet综合征（Dravet syndrome, DS）是儿童期起病的一种癫痫性脑病，由法国医生Dravet于1978年首次报道，早期称为婴儿严重肌阵挛性癫痫（severe myoclonic epilepsy in infancy, SMEI），但以后发现少数患儿病程中可始终不出现肌阵挛发作，故2001年国际抗癫痫联盟（International League Against Epilepsy, ILAE）将其正式更名为Dravet 综合征。本病发病率约为1/40000~1/20000，男女比例为2：1，约占小儿各型肌阵挛性癫痫的29.5%，占3岁以内婴幼儿癫痫的8%［1］。随着遗传诊断技术的发展，近年对DS的发病机制、临床特征及治疗等认识越来越清楚，现对DS的研究进展进行大致介绍。
文摘Dear Editor,Multiple evanescent white dot syndrome （MEWDS） was first described in 1984 as a rare, acute, unilateral,multifocal retinochoroidal disorder, typically affecting young myopic women. Previous studies with fluorescein angiography （FA） and electrophysiology suggested that MEWDS to be a disease in the retinal pigment epithelium （RPE） or outer retina, while recent studies with spectral- domain optical coherence tomography （SD-OCT） suggested it may be an outer retinal disease due to observation of hyperreflective material in outer retina and subtle disruptionsof the ellipsoid zone without RPE disruption.
文摘Dravet综合征（Dravet Syndrome,DS）是一种罕见的婴儿期起病的癫癎性脑病,由法国医生Dravet于1978年在法国内科杂志首次报道。国际抗癫癎联盟（International League Against Epilepsy,ILAE）1985年及1989年发表的'癫癎和癫癎综合征的分类'将其列入婴儿严重肌阵挛性癫癎（Severe Myoclonic Epilepsy In Infancy,SMEI）[1-2],
