Developmental and Epileptic Encephalopathy 34 (DEE34)

Alias:
Epileptic Encephalopathy, Early Infantile, 34
Dee34
Developmental and Epileptic Encephalopathy, 34
Eiee34
Early Infantile Epileptic Encephalopathy 34
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 34, also known as epileptic encephalopathy, early infantile, 34, is related to slc12a5-related epilepsy of infancy with migrating focal seizures and temporal lobe neoplasm. An important gene associated with Developmental and Epileptic Encephalopathy 34 is SLC12A5 (Solute Carrier Family 12 Member 5), and among its related pathways/superpathways is Signal transduction_JNK pathway. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
7
72
3

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