Developmental and Epileptic Encephalopathy 95 (DEE95)

Alias:
Glycosylphosphatidylinositol Biosynthesis Defect 18
Gpibd18
Dee95
Early Infantile Epileptic Encephalopathy 95
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 95, is also known as glycosylphosphatidylinositol biosynthesis defect 18. An important gene associated with Developmental and Epileptic Encephalopathy 95 is PIGS (Phosphatidylinositol Glycan Anchor Biosynthesis Class S). Affiliated tissues include pons and skin, and related phenotypes are seizure and ataxia
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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
3
2

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
No Data Found!
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