Developmental and Epileptic Encephalopathy 19 (DEE19)

Alias:
Epileptic Encephalopathy, Early Infantile, 19
Dee19
Developmental and Epileptic Encephalopathy, 19
Eiee19
Encephalopathy, Epileptic, Early Infantile, Type 19
Early Infantile Epileptic Encephalopathy 19
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 19, is also known as epileptic encephalopathy, early infantile, 19, and has symptoms including absence seizures and myoclonic seizures. An important gene associated with Developmental and Epileptic Encephalopathy 19 is GABRA1 (Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha1). Affiliated tissues include brain, and related phenotypes are intellectual disability and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
20
3

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

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

References Literature

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PMID
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IF
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