Developmental and Epileptic Encephalopathy 84 (DEE84)

Alias:
Jamuar Syndrome
Dee84
Developmental and Epileptic Encephalopathy, 84
Eiee84
Encephalopathy, Epileptic, Early Infantile, Type 84
Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Ifantile, 84
Early Infantile Epileptic Encephalopathy 84
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 84, also known as jamuar syndrome, is related to spinocerebellar ataxia, autosomal recessive 12 and developmental and epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 84 is UGDH (UDP-Glucose 6-Dehydrogenase). Affiliated tissues include brain and eye, and related phenotypes are seizure and delayed ability to sit
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
7
40
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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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

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PMID
Journal
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IF
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