Developmental and Epileptic Encephalopathy 13 (DEE13)

Alias:
Epileptic Encephalopathy, Early Infantile, 13
Dee13
Developmental and Epileptic Encephalopathy, 13
Eiee13
Encephalopathy, Developmental and Epileptic, Type 13
Early Infantile Epileptic Encephalopathy 13
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 13, also known as epileptic encephalopathy, early infantile, 13, is related to scn8a-related epilepsy with encephalopathy and developmental and epileptic encephalopathy 1. An important gene associated with Developmental and Epileptic Encephalopathy 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Affiliated tissues include brain and eye, 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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10
107
22

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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