Developmental and Epileptic Encephalopathy 6b (DEE6B)

Alias:
Dee6b
Developmental and Epileptic Encephalopathy 6b, Non-Dravet
Encephalopathy, Developmental and Epileptic, Type 6b
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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
发育性和癫痫性脑病6b,也称为dee6b,与scn1a癫痫发作障碍和常染色体显性大脑巨细胞病有关。与发育性和癫痫性脑病6b有关的重要基因是SCN1A(钠电压门控通道α亚基1)。相关组织包括大脑和眼睛,相关表型为肌张力减退和全球性发育延迟。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
20
8

Medical Symptom

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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

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PMID
Journal
Year
IF
No Data Found!
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