Developmental and Epileptic Encephalopathy 2 (DEE2)

发育性和癫痫性脑病2型(来自ICD-11)

别称:

Epileptic Encephalopathy, Early Infantile, 2

Eiee2

Dee2

Developmental and Epileptic Encephalopathy, 2

Issx2

Encephalopathy, Epileptic, Early Infantile, Type 2

Rett Syndrome Variant with Infantile Spasms

Early Infantile Epileptic Encephalopathy 2

Rett Syndrome Early-Onset Seizure Variant

Atypical Rett Syndrome Hanefeld Variant

Infantile Spasm Syndrome, X-Linked 2

Atypical Rett Syndrome Cdkl5-Related

X-Linked Infantile Spasm Syndrome 2

Infantile Spasm Syndrome X-Linked 2

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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2，也称为癫痫性脑病，早婴儿型2，与Rett综合症和小头畸形有关，症状包括便秘、肌阵挛和睡眠困难。与发育性和癫痫性脑病2有关的重要基因是CDKL5（细胞周期依赖性激酶样5），其相关通路/超级通路包括背角神经元的神经痛信号传导和G-βγ信号传导。相关组织包括眼睛和大脑，相关表型为全球发育延迟和EEG普遍慢活动。

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