Developmental and Epileptic Encephalopathy 91 (DEE91)

Alias:
Epileptic Encephalopathy, Infantile or Early Childhood, 1
Iecee1
Encephalopathy, Epileptic, Infantile or Early Childhood, Type 1
Infantile or Early Childhood Epileptic Encephalopathy 1
Dee91
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 91, also known as epileptic encephalopathy, infantile or early childhood, 1, is related to flying phobia. An important gene associated with Developmental and Epileptic Encephalopathy 91 is PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha), and among its related pathways/superpathways are Calmodulin induced events and Serotonin and anxiety. Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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2
22
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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