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Developmental and Epileptic Encephalopathy 104 (DEE104)

Alias:
Dee104
Early Infantile Epileptic Encephalopathy 104
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 104, is also known as dee104. An important gene associated with Developmental and Epileptic Encephalopathy 104 is ATP6V0A1 (ATPase H+ Transporting V0 Subunit A1). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
Related ID：
MALACARDS：DVL136
OMIM：619970
MESH：D013036

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
1
9
2
DVL136

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
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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
No Data Found!
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