Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant (CLN8NE)

神经元蜡样脂褐质沉积症8型北部癫痫亚型(来自ICD-11)

别称:

Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant

Northern Epilepsy

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Epmr

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Cln8 Disease, Northern Epilepsy Variant

Ncl, Northern Epilepsy Variant

Northern Epilepsy Syndrome

Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy with Mental Retardation, Northern Epilepsy

Epilepsy, Progressive, with Mental Retardation

Lipofuscinosis, Ceroid, Neuronal, Type 8b

Ceroid Lipofuscinosis, Neuronal, 8

Cln8ne

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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

神经突触性Ceroid Lipofuscinosis 8型，也称为神经突触性Ceroid Lipofuscinosis 8北部癫痫变异型，与神经突触性Ceroid Lipofuscinosis 6a和神经突触性Ceroid Lipofuscinosis 1有关，症状包括共济失调、肌阵挛和癫痫发作。Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant相关的重要基因是CLN8（CLN8跨膜ER和ERGIC蛋白）。相关组织包括大脑和丘脑，相关表型为智力障碍和癫痫发作。

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