Developmental and Epileptic Encephalopathy 28 (DEE28)

Alias:
Epileptic Encephalopathy, Early Infantile, 28
Dee28
Developmental and Epileptic Encephalopathy, 28
Eiee28
Encephalopathy, Developmental and Epileptic, Type 28
Early Infantile Epileptic Encephalopathy 28
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 28, also known as epileptic encephalopathy, early infantile, 28, is related to hereditary spastic paraplegia 51 and west syndrome, and has symptoms including muscle rigidity and muscle spasticity. An important gene associated with Developmental and Epileptic Encephalopathy 28 is WWOX (WW Domain Containing Oxidoreductase). Affiliated tissues include brain, and related phenotypes are microcephaly and optic atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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17
88
10

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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