Developmental and Epileptic Encephalopathy 31a (DEE31A)

Alias:
Developmental and Epileptic Encephalopathy 31
Dee31a
Dee31
Developmental and Epileptic Encephalopathy, 31
Epileptic Encephalopathy, Early Infantile, 31
Eiee31
Developmental and Epileptic Encephalopathy 31a, Autosomal Dominant
Evelopmental and Epileptic Encephalopathy, Type 31
Early Infantile Epileptic Encephalopathy 31
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 31a, also known as developmental and epileptic encephalopathy 31, is related to stereotypic movement disorder and aceruloplasminemia. An important gene associated with Developmental and Epileptic Encephalopathy 31a is DNM1 (Dynamin 1). Affiliated tissues include brain, and related phenotypes are intellectual disability and hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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2
18
20

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

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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
Year
IF
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