Developmental and Epileptic Encephalopathy 9 (DEE9)

发育性和癫痫性脑病9型(来自ICD-11)

别称:

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Juberg-Hellman Syndrome

Eiee9

Dee9

Female Restricted Epilepsy with Intellectual Disability

Epilepsy, Female-Restricted, with Mental Retardation

Developmental and Epileptic Encephalopathy, 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy with Mental Retardation

Encephalopathy, Epileptic, Early Infantile, Type 9

Early Infantile Epileptic Encephalopathy 9

Juberg Hellman Syndrome

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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

发育性和癫痫性脑病9，也称为efmr，与发育性和癫痫性脑病以及婴儿早期癫痫性脑病有关，其症状包括强直性发作、失神发作和肌阵挛发作。与发育性和癫痫性脑病9有关的重要基因是PCDH19（Protocadherin 19），其相关通路/超级通路包括神经科学和Rett综合征致病基因。附属组织包括大脑，相关表型包括热性惊厥（年龄范围为3个月至6岁）和智力障碍

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