Non-Specific Early-Onset Epileptic Encephalopathy

Non-Specific Early-Onset Epileptic Encephalopathy(来自ICD-11)
别称:
Undetermined Early-Onset Epileptic Encephalopathy
Non-Specific Eoee
Undetermined Eoee
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Non-Specific Early-Onset Epileptic Encephalopathy, also known as undetermined early-onset epileptic encephalopathy, is related to familial or sporadic hemiplegic migraine and cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2. An important gene associated with Non-Specific Early-Onset Epileptic Encephalopathy is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2), and among its related pathways/superpathways are Presenilin-Mediated Signaling and Fc-GammaR Pathway. Affiliated tissues include brain and eye, and related phenotypes are encephalopathy and intellectual disability
查看原文 参与反馈

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
XLD
AD
AR
XL
Newborn
--
52
454
3

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