Developmental and Epileptic Encephalopathy 30 (DEE30)

Alias:
Dee30
Developmental and Epileptic Encephalopathy, 30
Epileptic Encephalopathy, Early Infantile, 30
Eiee30
Encephalopathy, Epileptic, Early Infantile, Type 30
Early Infantile Epileptic Encephalopathy 30
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 30, also known as dee30, is related to infancy electroclinical syndrome and childhood electroclinical syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 30 is SIK1 (Salt Inducible Kinase 1), and among its related pathways/superpathways are Neuroscience and Circadian Clock. Affiliated tissues include eye and brain, and related phenotypes are seizure 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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9
98
1

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
No data available

Related Drugs

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CAS Number
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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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