Developmental and Epileptic Encephalopathy 74 (DEE74)

Alias:
Dee74
Developmental and Epileptic Encephalopathy, 74
Epileptic Encephalopathy, Early Infantile, 74
Eiee74
Encephalopathy, Epileptic, Early Infantile, Type 74
Early Infantile Epileptic Encephalopathy 74
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 74, also known as dee74, is related to febrile seizures, familial, 9 and non-specific early-onset epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 74 is GABRG2 (Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2), and among its related pathways/superpathways are Signal Transduction and Akt Signaling. Affiliated tissues include eye and brain, and related phenotypes are absent speech and severe global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
4
56
5

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!
Wechat
Comparison
Al agent
Tutorials
Back to top