Dravet Syndrome (DRVT)

Dravet综合征(来自ICD-11)

别称:

Severe Myoclonic Epilepsy of Infancy

Severe Myoclonic Epilepsy in Infancy

Smei

Developmental and Epileptic Encephalopathy 6a

Dee6a

Developmental and Epileptic Encephalopathy, 6

Epileptic Encephalopathy, Early Infantile, 6

Severe Myoclonus Epilepsy of Infancy

Eiee6

Drvt

Epilepsy, Intractable Childhood, with Generalized Tonic-Clonic Seizures

Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures

Developmental and Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Smei-Borderland More Than One Feature

Infantile Severe Myoclonic Epilepsy

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Borderline Smei

Smei-Borderland

Smeb-Sw

Smeb-M

Smeb-O

Icegtc

Dee6

Smeb

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Dravet 综合征，也被称为婴儿严重肌阵挛性癫痫，与伴有发热惊厥的全身性癫痫和发育性和癫痫性脑病 52 有关，症状包括共济失调、失神发作和肌阵挛发作。与 Dravet 综合征有关的重要基因是 SCN1A（钠电压门控通道α亚基1），其相关通路/超级通路包括 cAMP 依赖性 PKA 活化和甜味信号通路。在该疾病的背景下，已提到过肝提取物和乙醇。相关组织包括大脑和肝脏，相关表型为发育退化和局灶性发作。

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