Developmental and Epileptic Encephalopathy 1 (DEE1)

Alias:

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

Eiee1

Issx1

Dee1

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental and Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

Xmesid

Myoclonic Epilepsy X-Linked with Intellectual Disability and Spasticity

Encephalopathy, Developmental and Epileptic, Type 1

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Infantile Spasm Syndrome, X-Linked 1

Infantile Spasm Syndrome X-Linked 1

Ohtahara Syndrome, X-Linked

X-Linked Ohtahara Syndrome

Ohtahara Syndrome X-Linked

West Syndrome, X-Linked

X-Linked West Syndrome

West Syndrome X-Linked

Issx

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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1，也称为婴儿早期癫痫性脑病1，与发育性和癫痫性脑病2和智力发育障碍，X连锁29有关，症状包括呼吸困难、肌肉痉挛和肌阵挛发作。与发育性和癫痫性脑病1有关的重要基因是ARX（Aristaless相关同源盒），其相关通路/超级通路包括多巴胺-DARPP32反馈到cAMP通路和神经科学。附属组织包括脑和眼，相关表型为智力障碍和痉挛。

Related ID：

MALACARDS：DVL033

OMIM：308350

MESH：D013036