Developmental and Epileptic Encephalopathy 43 (DEE43)

Alias:
Epileptic Encephalopathy, Early Infantile, 43
Dee43
Developmental and Epileptic Encephalopathy, 43
Eiee43
Early Infantile Epileptic Encephalopathy 43
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 43, also known as epileptic encephalopathy, early infantile, 43, is related to developmental and epileptic encephalopathy and benign neonatal seizures. An important gene associated with Developmental and Epileptic Encephalopathy 43 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Subunit Beta3), and among its related pathways/superpathways are Akt Signaling and Transmission across Chemical Synapses. Affiliated tissues include brain, and related phenotypes are global developmental delay and infantile spasms
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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7
90
6

Medical Symptom

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Categorization
Description
HPO Frequency
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No data available

Gene & Mutation

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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