Developmental and Epileptic Encephalopathy 38 (DEE38)

Alias:
Epileptic Encephalopathy, Early Infantile, 38
Dee38
Developmental and Epileptic Encephalopathy, 38
Eiee38
Glycosylphosphatidylinositol Biosynthesis Defect 23
Early Infantile Epileptic Encephalopathy 38
Gpibd23
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 38, also known as epileptic encephalopathy, early infantile, 38, is related to developmental and epileptic encephalopathy 26 and non-specific early-onset epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 38 is ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator), and among its related pathways/superpathways are Innate Immune System and Complement cascade. Affiliated tissues include eye and brain, and related phenotypes are ataxia and developmental regression
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
11
66
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

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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
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IF
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