Epilepsy, Idiopathic Generalized 17 (EIG17)

Alias:
Febrile Seizures, Familial, 2
Familial Febrile Seizures 2
Eig17
Feb2
Epilepsy, Idiopathic Generalized, Susceptibility to, 17
Convulsions, Familial Febrile, 2
Familial Febrile Convulsions 2
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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,特发性全面性17型,又称热性惊厥,家族性,2型,与家族性热性惊厥和热性惊厥,家族性,1型有关。与癫痫,特发性全面性17型相关的基因是HCN2(超极化激活环核苷酸门控钾和钠通道2)。相关组织包括大脑和颞叶,相关表型为双侧强直-阵挛发作和肌阵挛发作。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
7
30
6

Medical Symptom

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

Gene & Mutation

#
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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