Epilepsy, Familial Focal, with Variable Foci 1 (FFEVF1)

Epilepsy, Familial Focal, with Variable Foci 1(来自ICD-11)
别称:
Familial Focal Epilepsy with Variable Foci
Ffevf
Familial Partial Epilepsy with Variable Foci
Epilepsy, Partial, with Variable Foci
Partial Epilepsy with Variable Foci
Ffevf1
Fpevf
Epilepsy, Familial Focal, with Variable Foci, Type 1
Epilepsy, Familial Focal, with Variable Foci
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epilepsy, Familial Focal, with Variable Foci 1, also known as familial focal epilepsy with variable foci, is related to focal epilepsy and autosomal dominant nocturnal frontal lobe epilepsy. An important gene associated with Epilepsy, Familial Focal, with Variable Foci 1 is DEPDC5 (DEP Domain Containing 5, GATOR1 Subcomplex Subunit), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. Affiliated tissues include temporal lobe and brain, and related phenotypes are focal-onset seizure and eeg with focal epileptiform discharges
查看原文 参与反馈
相关ID:

基础信息

遗传方式
发病时间
患病率/发病率
相关基因
相关模型
参考文献
MALACARDS
AD
Unknown
--
5
37
43

疾病表征

#
分类
表征
HPO概率
Orphanet概率
HPO来源
暂无相关数据

基因 & 突变

#
基因
作用分类
分值
突变数量
暂无相关数据

靶点药物

药物名称
CAS号
研发状态
临床阶段
暂无相关数据

疾病模型

类型
名称
MGI
相关基因
品系来源
文献数量
暂无相关数据

文献报道

标题
PMID
期刊
年代
IF
暂无数据
Wechat
Comparison
Al agent
Tutorials
Back to top