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中文Dravet Syndrome (DRVT)
Alias:
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
Favorite
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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