Developmental and Epileptic Encephalopathy 18 (DEE18)

Alias:
Epileptic Encephalopathy, Early Infantile, 18
Dee18
Developmental and Epileptic Encephalopathy, 18
Encephalopathy, Developmental and Epileptic, Type 18
Early Infantile Epileptic Encephalopathy 18
Eiee18
Eiee1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 18, also known as epileptic encephalopathy, early infantile, 18, is related to developmental and epileptic encephalopathy 1 and early infantile epileptic encephalopathy, and has symptoms including absence seizures An important gene associated with Developmental and Epileptic Encephalopathy 18 is SZT2 (SZT2 Subunit Of KICSTOR Complex). Affiliated tissues include brain, and related phenotypes are hypotonia and profound global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
6
11

Medical Symptom

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

Gene & Mutation

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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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