Generalized Epilepsy with Febrile Seizures Plus, Type 9 (GEFSP9)

Generalized Epilepsy with Febrile Seizures Plus, Type 9(来自ICD-11)
别称:
Generalized Epilepsy with Febrile Seizures Plus 9
Gefsp9
Gefs+9
Epilepsy, Generalized, with Febrile Seizures Plus, Type 9
Generalised Epilepsy with Febrile Seizures Plus Type 9
Generalized Epilepsy with Febrile Seizures Plus Type 9
Generalised Epilepsy with Febrile Seizures Plus 9
Gefs+, Type 9
Gefs+ Type 9
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Generalized Epilepsy with Febrile Seizures Plus, Type 9, also known as generalized epilepsy with febrile seizures plus 9, is related to congenital myopathy 12 and seckel syndrome 5, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 9 is STX1B (Syntaxin 1B), and among its related pathways/superpathways is Nervous system development. Affiliated tissues include brain, and related phenotypes are febrile seizure (within the age range of 3 months to 6 years) and bilateral tonic-clonic seizure
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
--
6
39
7

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