Early Infantile Epileptic Encephalopathy (EIEE)

Alias:
Ohtahara Syndrome
Early Infantile Epileptic Encephalopathy with Suppression-Bursts
Early Infantile Epileptic Encephalopathy with Suppression Bursts
Eiee
Early Infantile Epileptic Encephalopathy with Burst-Suppression
Encephalopathy, Epileptic, Early Infantile
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Early Infantile Epileptic Encephalopathy, also known as ohtahara syndrome, is related to developmental and epileptic encephalopathy 1 and developmental and epileptic encephalopathy 7. An important gene associated with Early Infantile Epileptic Encephalopathy is SLC25A22 (Solute Carrier Family 25 Member 22), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. Affiliated tissues include brain and eye, and related phenotypes are seizure and intellectual disability
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
1-9/100000
176
1399
499

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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