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:

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

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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