Developmental and Epileptic Encephalopathy 24 (DEE24)

Alias:
Epileptic Encephalopathy, Early Infantile, 24
Dee24
Developmental and Epileptic Encephalopathy, 24
Eiee24
Encephalopathy, Epileptic, Early Infantile, Type 24
Early Infantile Epileptic Encephalopathy 24
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Developmental and Epileptic Encephalopathy 24, also known as epileptic encephalopathy, early infantile, 24, is related to tremor, hereditary essential, 1 and leber optic atrophy and dystonia. An important gene associated with Developmental and Epileptic Encephalopathy 24 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1), and among its related pathways/superpathways are Trk receptor signaling mediated by the MAPK pathway and TRP channels. Affiliated tissues include brain, and related phenotypes are intellectual disability and generalized non-motor (absence) seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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17
134
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
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No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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