Developmental and Epileptic Encephalopathy 17 (DEE17)

Alias:
Epileptic Encephalopathy, Early Infantile, 17
Dee17
Developmental and Epileptic Encephalopathy, 17
Eiee17
Developmental and Epileptic Encephalopathy, Type 17
Early Infantile Epileptic Encephalopathy 17
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 17, also known as epileptic encephalopathy, early infantile, 17, is related to epilepsy and developmental and epileptic encephalopathy 1, and has symptoms including tonic seizures An important gene associated with Developmental and Epileptic Encephalopathy 17 is GNAO1 (G Protein Subunit Alpha O1), and among its related pathways/superpathways are EphB-EphrinB Signaling and AMPK Enzyme Complex Pathway. Affiliated tissues include tongue and brain, and related phenotypes are global developmental delay 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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5
51
14

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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IF
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