Developmental and Epileptic Encephalopathy 12 (DEE12)

Alias:
Epileptic Encephalopathy, Early Infantile, 12
Dee12
Developmental and Epileptic Encephalopathy, 12
Eiee12
Encephalopathy, Epileptic, Early Infantile, Type 12
Early Infantile Epileptic Encephalopathy 12
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 12, also known as epileptic encephalopathy, early infantile, 12, is related to central nervous system sarcoma and botryoid rhabdomyosarcoma, and has symptoms including muscle spasticity An important gene associated with Developmental and Epileptic Encephalopathy 12 is PLCB1 (Phospholipase C Beta 1). Affiliated tissues include eye and brain, and related phenotypes are spasticity and developmental regression
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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12
48
33

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
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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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