Developmental and Epileptic Encephalopathy 65 (DEE65)

Alias:
Dee65
Developmental and Epileptic Encephalopathy, 65
Epileptic Encephalopathy, Early Infantile, 65
Eiee65
Encephalopathy, Epileptic, Early Infantile, Type 65
Early Infantile Epileptic Encephalopathy 65
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 65, also known as dee65, is related to west syndrome and early infantile epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 65 is CYFIP2 (Cytoplasmic FMR1 Interacting Protein 2). Affiliated tissues include brain, and related phenotypes are seizure and absent speech
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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9
56
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

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PMID
Journal
Year
IF
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