Developmental and Epileptic Encephalopathy 39 with Leukodystrophy (DEE39)

发育性和癫痫性脑病39型伴有脑白质营养不良(来自ICD-11)

别称:

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

Developmental and Epileptic Encephalopathy 39

Epileptic Encephalopathy with Global Cerebral Demyelination

Developmental and Epileptic Encephalopathy, 39

Aspartate-Glutamate Carrier 1 Deficiency

Eiee39

Dee39

Hereditary Central Nervous System Demyelinating Diseases

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Early Infantile Epileptic Encephalopathy 39

Global Cerebral Hypomyelination

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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39伴有白质营养不良，也称为弥漫性脑白质营养不良，与婴儿早期癫痫性脑病和肌张力低下有关，症状包括肌肉痉挛和癫痫发作。与发育性和癫痫性脑病39伴有白质营养不良有关的重要基因是SLC25A12（溶质载体家族25成员12），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。相关组织包括脑和眼，相关表型为癫痫发作和肌张力低下。

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