Developmental and Epileptic Encephalopathy 14 (DEE14)

Alias:
Epileptic Encephalopathy, Early Infantile, 14
Dee14
Developmental and Epileptic Encephalopathy, 14
Eiee14
Encephalopathy, Epileptic, Early Infantile, Type 14
Malignant Migrating Partial Seizures of Infancy
Early Infantile Epileptic Encephalopathy 14
Mmpsi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 14, also known as epileptic encephalopathy, early infantile, 14, is related to malignant migrating focal seizures of infancy and developmental and epileptic encephalopathy 1, and has symptoms including clonus and twitching of facial muscles. An important gene associated with Developmental and Epileptic Encephalopathy 14 is KCNT1 (Potassium Sodium-Activated Channel Subfamily T Member 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include brain and eye, and related phenotypes are reduced eye contact and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
--
17
286
46

Medical Symptom

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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

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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
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IF
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