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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Epilepsy, Familial Temporal Lobe, 1 (ETL1)
Alias:
Adpeaf
Etl1
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Epilepsy, Partial, with Auditory Features
Partial Epilepsy with Auditory Features
Familial Temporal Lobe Epilepsy 1
Adlte
Lateral Temporal Lobe Epilepsy Autosomal Dominant
Epilepsy, Temporal Lobe, Familial, Type 1
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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
癫痫,家族性颞叶型1,也被称为adpeaf,与常染色体显性癫痫伴听觉特征和癫痫,家族性颞叶型7有关。与癫痫,家族性颞叶型1相关的基因是LGI1(Leucine Rich Glioma Inactivated 1),其相关通路/超级通路包括神经系统发育和LGI-ADAM相互作用。附属组织包括颞叶和大脑,相关表型为双侧强直阵挛发作和双侧强直阵挛发作伴有局部发作。
Related ID:
MALACARDS:EPL114
OMIM:600512
MESH:D004833
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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30
274
22
EPL114
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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No data available
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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