Developmental and Epileptic Encephalopathy 16 (DEE16)

Alias:
Epileptic Encephalopathy, Early Infantile, 16
Dee16
Developmental and Epileptic Encephalopathy, 16
Eiee16
Encephalopathy, Epileptic, Early Infantile, Type 16
Progressive Myoclonic Epilepsy with Dystonia
Progressive Myoclonus Epilepsy with Dystonia
Early Infantile Epileptic Encephalopathy 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 16, also known as epileptic encephalopathy, early infantile, 16, is related to myoclonic epilepsy of unverricht and lundborg and early myoclonic encephalopathy, and has symptoms including hemiparesis, myoclonus and abnormality of extrapyramidal motor function. An important gene associated with Developmental and Epileptic Encephalopathy 16 is TBC1D24 (TBC1 Domain Family Member 24). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are abnormal pyramidal sign and recurrent upper respiratory tract infections
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
6
37
10

Medical Symptom

#
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
Year
IF
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