Developmental and Epileptic Encephalopathy 93 (DEE93)

Alias:
Epileptic Encephalopathy, Infantile or Early Childhood, 3
Iecee3
Dee93
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 42
Infantile or Early Childhood Epileptic Encephalopathy 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 93, is also known as epileptic encephalopathy, infantile or early childhood, 3. An important gene associated with Developmental and Epileptic Encephalopathy 93 is ATP6V1A (ATPase H+ Transporting V1 Subunit A). Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
4
3

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

Title
PMID
Journal
Year
IF
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